What is Autism Spectrum Disorder (ASD) and what are the gene-edited mouse models for autism? | Community>Bulletin (2023)

Autism Spectrum Disorder (ASD)refers to a broad spectrum of complex neurodevelopmental conditions that have many theorized causative factors, but there have been many genetic mutations associated with susceptibility to autism and altered brain structure associated with ASD.

Due to the lack ofappropriateinterpersonalCommunicationand interactioncompetencies,and limited or repetitive interests or behaviors,It is difficult for autistic patients to understand other people's emotions and to express their own feelings. The number of new patients with autism is gradually increasing every year, but unfortunately the current treatments for autism are very limited and thefactthat there are many patientspowerASDanimportantobjectProScientific Researchof developmental disabilities in children.Treatment for people with ASD varies based on their unique strengths and challenges, with the overall goal of improving quality of life by reducing symptoms that interfere with daily functioning.

nowWe will present the gene-edited mouse models of autism.

01 ASD introduction

ASD, also known as Autism Spectrum Condition (ASC), is a generalized developmental disorder caused by differences in brain development,symptomsof whichThese include abnormal language and communication skills, narrow interests, andrepetitivebehavior pattern.[1]Additionally, people with ASD may have different ways of learning to exercise or pay attention.In 2013, the fifth edition of the Diagnostic Statistical Manual of Mental Disorders (DSMV) in the United States revised the diagnostic criteria for autism and related disorders and deleted the originaldesignation of 'Autism'andupdate hisvaluationikationinAutism Spectrum Disorder (ASD). ASDis an umbrella term thatcontainsautism disorder(classicAlly known asautism), Asperger Syndrome (AS),Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS)and childhood disintegrative disorder (CDD).[2]Usually what people call autismmore accuraterefers to ASD, which is autism in a broader sense.

02 Pathogenesis of ASD

The specific pathogenic mechanism of ASD is unknown. The mainstream view is that it's mostly related to thatgenetics and environment. show datasthat ASD is a highly heritable disease and the concordance rate in identical twins is as high as 90%. A meta-analysis published in 2016 reported that 74-93% of autism risk is heritable, and studies of siblings in the same family showed that once an older child is diagnosed with ASD, more children followhada 7-20% chance of developing ASD.[3]More than 1,000 genes have been found to be associated with the genetic risk of ASD, most of which are closely related to normal neural development and connectivity between different functional regions of the brain, suggesting a common pathway leading to ASD risk.[4]Genetic abnormalities associated with ASD can be classified into three categories:

1.Individual gene mutations:like mutations found inSHAFT3,FMR1,orMECP2;

(Video) Journal club: Rescue of social deficits in autism mouse model

2.Copy number variations (CNVs):including chromosomal duplications, large deletions, inversions and translocations;

3.Polygenic risk factors:cthrough the accumulation of several variants.However,the primary culpritGen(s)andSpecificThe nature of the mutation is still being researched.

03 ASS symptoms

The current worldwide incidence of ASA is approximately 0.6% to 1%. In the United States, ASD affects 1 in 68 children, and the incidence rate is 4.5 times higher in boys than in girls. ASD typically begins before age 3 and lasts for life. As children with ASD grow into adolescents and adults, they have extreme difficulty making and maintaining friendships or communicating with others, along with symptoms such as anxiety, depression, and attention-deficit hyperactivity disorder (ADHD)..[5]Currently, the treatment of ASD is mainly symptomatic treatment, mainly targeting symptoms that affect daily functioning and quality of life. Because ASD affects everyone differently, each patient has different treatment needsand the therapeutischStrategies typically span multiple professional fields.Sincethe pathogenesis mechanism is still unclear, there is currently no etiological treatmentor preventivefor ASD and more research on the pathologieof ASD is urgently needed.

04 ASD disease models

Data from patients with ASD showedthat the following genes all have mutations associated with ASD risk:Neuroligin (NLGN3/4), Neuronal Cell Surface Proteins (NRXN1 and CNTNAP2), SH3 and Multiple Ankyrin Repeat Domains Protein 3 (SHANK3), Methyl-CpG-binding protein 2 (MECP2), Fragile X Messenger Ribonucleoprotein 1 (FMR1), Tubers sclerosis complex (TSC1/2),CHD8,SCN2A,SYNGAP1,TBX1,ARID1B,GRIN2B, andTBR1;[5]but not every gene mutation leads todevelopment ofASD, the pathogenicity ofeveryoneGene mutation requires sufficient experimental data to verify it. Over the past decades of research, researchers have constructed a number of autism or autism-like mice induced by deletion of ASD-related genes, providing more animal models for research into ASD disease mechanisms, drug target discovery, anddevelopmentnew treatment methods. The following are some large gene-edited autism mouse models, all of which are in particular on the background of the C57BL/6J (aka B6, B6J) mouse strain (which differs from the B/6N substrain).

Tbx1mice(E1-E2 KO)

Large deletions oftheThe human chromosome 22q11.2 locus can give rise to ASD-like phenotypes, but the deletion region contains at least 30 genes and theSpecificGenes that lead to ASD phenotypesstill needbe identified. The study by Takeshi Hiramoto et al. in 2011 showed that among the more than 30 genes contained in the 22q11.2 large fragment deletion sequence,Tbx1indicated a high levelcorrelationwith the development of ASD, and the heterozygous mice (HT) withTbx1showed single gene deletionan ASD-like phenotype with deficits in social interaction,and changesmemory-based behaviors,working memory,anddevelopmental differences.[6]What is Autism Spectrum Disorder (ASD) and what are the gene-edited mouse models for autism? | Community>Bulletin (1)

Illustration 1.Tbx1heterozygous mice (HT) displayed ASD-related behavioral phenotypes

(Video) Linking Genes Brain and Behavior in Autism Spectrum Disorder

left: frequency and duration of vocalizations

right: T-maze spontaneous alternation (SAB)[6]

SStrang3Bmice(E13-E16 KO)

Mutations in the SHANK family genes are associated with syndromic and idiopathic diseasestypes ofASD,as well asother neuropsychiatric(e.g. schizophrenia)and neurodevelopmental disorders (z.B.limited intellect).SHANK3 is a postsynaptic protein whose disruption at the genetic level is responsible for the development of 22q13 deletion syndrome and other non-syndromic ASD. In a research paper published inNature, Joathe piece describes itshank3Gene null mice exhibit defects in striatal synapses and cortico-striatal circuitry, accompanied by self-injurious, repetitive grooming and deficits in social interaction. This study showed the key role of SHANK3in the normal development of neuronal connections and successfully uncovered the association between SHANK3 loss and autism-like behavior in mice.[7]

Figure 2.Shank3B-/-Mice have reduced social interaction and abnormal social novelty recognition[7]

Cntnap2mice(E1 KO)

CNTNAP2encodes a neuronal transmembrane protein from the neurexin superfamily involved in the interaction between neurons and glial cells and the accumulation of calcium channels in myelinated axons. mutations onCNTNAP2were originally shown to be associated with cortical dysplasia-focal epilepsy syndrome (CDFE), a rare condition that causes seizures, speech impairment, intellectual disability and hyperactivity. Simultaneously,Almost two-thirds of ASD-similar phenotypes also exist in patients withCNTDAY2mutations andan increasing number ofSubsequent studies have shown the link between this gene and increased risk of autism or autism-related endophenotypes. Daniel H. Geschwind et al. have shown that the knockout of the mouseCntnap2The gene is closely linked to ASD and related neurodevelopmental disorders, according to a research paper published in the journalcell.Cntnap2-/-Mice show deficits in all three diagnostic symptoms of ASD, accompanied by hyperactivity and seizure phenotypeswhich are highly consistent with symptoms in patients withCNTNAP2pathogenic variants,[8]make thatone of the models thatthe mostfully representthe phenotype of human ASD disease.

What is Autism Spectrum Disorder (ASD) and what are the gene-edited mouse models for autism? | Community>Bulletin (2)

(Video) Autism Spectrum Disorders: An Overview

Figure 3.Cntnap2-/-Mice exhibit an ASD phenotype with abnormal communication and social behavior[8]

05s mouse model of autism research

Cyagen has thousands of proprietary genetically modified mouse strains and can provide a range of mouse models related to autism research.The model information is listed in the table below. At the same time, we can also provide professional customized services according to your needsProjectneed to speed up your research. Mouse models from ASD

GenKnockout-RegionProduct numberStammname
SHAFT3Exon4-9S-KO-11106C57BL/6J -shank3em1Cya
Exon 13-16S-KO-16224C57BL/6J shank3em1Cya
Exon4-9S-CKO-12419C57BL/6J -shank3em1(flox)Cya
Cntnap2Exon3S-KO-15901C57BL/6J -Cntnap2em1Cya
Exon3S-CKO-17468C57BL/6J -Cntnap2em1(flox)Cya

Cyagen Knockout Catalog Models Repository can fully meet the project needs of basic research and new drug development, which provides the followingcommercial mouse models covering more than 20 research areas such as oncology, cardiovascular and neurology.The powerful database brings you a more comfortable experienceto obtain knockout mice on a 100% pure B6 background, with delivery in as little as 2 weeks. researchers canSeekour repository of over 16,000 KO/cKO mice to discover research models,compareData, andAsk for a quote.


[1]Lord C, Elsabbagh M, Baird G, et al. Autism Spectrum Disorder [J]. Lancet, 2018, 392(10146): 508-20.

[2]Wakefield, J.C. DSM-5: A review of changes and controversies. Clin Soc Work J 41, 139-154 (2013).

(Video) Feng Zhang discusses genome editing in autism research

[3]Tick B, Bolton P, Happé F, et al. Heritability of autism spectrum disorders: a meta-analysis of twin studies [J]. Journal of Child Psychology and Psychiatry, 2016, 57.

[4]Ge Schnell, Daniel, H., et al. Gene hunting in autism spectrum disorders: Towards precision medicine [J]. Lancet Neurology, 2015.

[5] Varghese M, Keshav N, Jacot-Descombes S, et al. Autism spectrum disorder: neuropathology and animal models [J]. Acta Neuropathol, 2017, 134(4):537-566.

[6]Takeshi, Hiramoto, Gina, et al. Tbx1: Identification of a 22q11.2 gene as a risk factor for autism spectrum disorders in a mouse model.[J]. Human Molecular Genetics, 2011.

[7]Peça J, Feliciano C, Ting JT, et al. Mutant Shank3 mice show autistic-like behaviors and striatal dysfunction [J]. Nature, 2011, 472(7344):437.

[8] Pe Agarikano O, Abrahams B, Herman E, et al. The absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.[J]. Cell, 2011, 147(1):235-246.

(Video) Insights Into the Brain of an Autistic Child

[9]Wang Jianfei, Han Junhai, Zhang Zichao. Behavioral Analysis in Mouse Models of Autism Spectrum Disorders [J].Hereditas (Beijing),2021,43(5):501-519.


What is the mouse model of ASD? ›

The BTBR T+tf/J mouse model has been reported to exhibit several symptoms of ASD, including reduced social interactions and anxiety compared to other inbred strains. Additionally, the brain anatomy in this mouse model has previously revealed profound abnormalities compared to regular strains, such as C57Bl/6J mice.

What is autism spectrum disorder definition? ›

Autism spectrum disorder (ASD) is a developmental disability caused by differences in the brain. People with ASD often have problems with social communication and interaction, and restricted or repetitive behaviors or interests. People with ASD may also have different ways of learning, moving, or paying attention.

What is the difference between autism and autism spectrum disorder ASD? ›

They are one and the same. The Autism Spectrum Disorder (ASD) is the clinical definition for autism. Some people chose to be referred to as “an autistic person”, while others prefer to be referred to “a person with autism”.

What are the 3 main components of autism spectrum disorder? ›

These disorders are characterized by three core deficits: impaired communication, impaired reciprocal social interaction and restricted, repetitive and stereotyped patterns of behaviors or interests.

What is genetic mouse models? ›

A genetically modified mouse or genetically engineered mouse model (GEMM) is a mouse (Mus musculus) that has had its genome altered through the use of genetic engineering techniques. Genetically modified mice are commonly used for research or as animal models of human diseases, and are also used for research on genes.

What are the different types of mouse models? ›

Mouse Models
  • Inbred Mice. Inbred mice are defined as colonies produced by a minimum of 20 generations of brother-sister mating, traceable to a single founding pair. ...
  • Outbred Mice. Breeding outbred mice can be challenging. ...
  • Hybrid Mice. ...
  • Immunodeficient Mice. ...
  • Oncology Mice. ...
  • Humanized Mice. ...
  • Germ-Free Mice. ...
  • Transgenic Mice.

What are the 5 disorders on the autism spectrum? ›

There are five major types of autism which include Asperger's syndrome, Rett syndrome, childhood disintegrative disorder, Kanner's syndrome, and pervasive developmental disorder – not otherwise specified.

What are the 4 types of autism? ›

What are the types of autism?
  • autism spectrum disorder (ASD)
  • Asperger's syndrome.
  • childhood disintegrative disorder.
  • pervasive developmental disorder-not otherwise specified.
Mar 3, 2021

What are the 5 main symptoms of autism? ›

Common signs of autism

Delayed speech and communication skills. Reliance on rules and routines. Being upset by relatively minor changes. Unexpected reactions to sounds, tastes, sights, touch and smells.

Why is autism now called autism spectrum disorder? ›

Autism is highly variable – the word 'spectrum' refers to how autism is experienced differently by different people. Autism is considered a spectrum because it's different for every autistic person – some autistic people might need more support than others to live the lives they want to lead.

Is Autism Spectrum Disorder Genetic? ›

Although the cause of ASD is known in some people and not known in others, genetics, biology, and environment are all important factors. Having older parents, a difficult birth, or infections during pregnancy are all examples of factors that might increase the risk for having ASD.

What is the difference between Asperger's syndrome and ASD? ›

Many professionals believed Asperger's was a more mild form of autism, leading to the origin of the phrase “high-functioning”. Now, children with Asperger's symptoms are diagnosed with autism spectrum disorder (ASD). Their symptoms are typically on the milder side, but every child experiences symptoms differently.

What are the most common first 3 symptoms that appear in autism spectrum disorder? ›

Signs and Symptoms

People with ASD often have problems with social communication and interaction, and restricted or repetitive behaviors or interests. People with ASD may also have different ways of learning, moving, or paying attention. These characteristics can make life very challenging.

What are the 2 main diagnostic features of autism spectrum disorder? ›

Professionals diagnose autism spectrum disorder on the basis of difficulties in 2 areas – 'social communication', and 'restricted, repetitive and/or sensory behaviours or interests'.

What are the two main characteristics of autism spectrum disorder? ›

There are two main areas that are affected when an individual has ASD: ● social-communication skills, and ● restricted and repetitive behaviors. Individuals who have been diagnosed with ASD may have difficulty communicating with others, making friends and relating to other people.

What is an example of genetically modified mice? ›

Examples of transgenic strains

– Oncomice, have an inactivated oncogene, and are predisposed to developing cancer. These mice have been vital to the understanding of many cancers and the development of technologies to treat them. – Doogie mice show improved memory and capacity for learning.

What is the mouse model used for? ›

A mouse model is a laboratory mouse used to study some aspect of human physiology or disease. A variety of different model organisms are used in this regard, but mice are especially useful because they share mammalian features with humans and suffer from many of the same diseases.

What is the purpose of genetically modified mice? ›

Genetically engineered mice are useful for elucidating basic biological processes, studying relationships between gene mutations and disease phenotypes, and modeling human disease.

What are the 3 types of mouse? ›

The 11 Different Types of Mouse for Your Computer
  • Wired Mouse.
  • Wireless Mouse.
  • Bluetooth Mouse.
  • Comparing Wired vs. Wireless vs. Bluetooth Mice.
  • Trackball Mouse.
  • Laser Mouse.
  • Comparing Trackball vs. Optical vs. Laser Mice.
  • Magic Mouse.
Jul 14, 2022

What are 2 main mouse types? ›

There are two main mouse types: optical and mechanical. The optical mouse uses an electronic eye to detect movement and is easier to clean. The mechanical mouse uses a rolling ball to detect movement and requires regular cleaning to work properly.

What can genetic manipulation in mouse models help us to understand? ›

Genetic manipulation of the mouse genome is thus essential for understanding gene function and for uncovering the genetic and molecular basis of human disease, leading to improved diagnostic accuracy, development of targeted therapeutics and the implementation of effective prevention strategies.

What is the most common autism disorder? ›

The three most common forms of autism in the pre-2013 classification system were Autistic Disorder—or classic autism; Asperger's Syndrome; and Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS). These three disorders share many of the same symptoms, but they differ in their severity and impact.

What is level 1 autism spectrum disorder? ›

Level 1 is the mildest, or “highest functioning” form of autism, which includes those who would have previously been diagnosed with Asperger's syndrome. Individuals with ASD level 1 may have difficulty understanding social cues and may struggle to form and maintain personal relationships.

What is the most common type of autism? ›

The Most Common Types of Autism Spectrum Disorders
  • Autistic disorder. Patients experiencing autism disorder usually have language delays, social and communication challenges, intellectual disabilities, and unusual behavior and interests. ...
  • Asperger Syndrome. ...
  • Pervasive Developmental Disorder – Not Otherwise Specified.
May 19, 2021

What is the mildest form of autism called? ›

Asperger's Syndrome is the mildest form of autism and is closely associated with level one of ASD.

What is another name for autism? ›

Until recently, experts talked about different types of autism, such as autistic disorder, Asperger's syndrome, pervasive developmental disorder not otherwise specified (PDD-NOS). But now they are all called “autism spectrum disorders.”

How does autism affect the brain? ›

In the autistic brain, the brain reduced connectivity, known as hypoconnectivity, allows weakly connected regions to drift apart, with sulci forming between them.” Research has shown the deeper theses sulcal pits are, the more language production is affected.

What can trigger autism symptoms? ›

Advanced parental age at time of conception. Prenatal exposure to air pollution or certain pesticides. Maternal obesity, diabetes, or immune system disorders. Extreme prematurity or very low birth weight.

What are uncommon symptoms of autism? ›

While the exact cause isn't known, children with ASD experience stomach or bowel issues more frequently than other kids. These types of symptoms might include stomach cramps, nausea, constipation, and chronic diarrhea, which can make their attempts to socialize even more challenging.

What are the mildest symptoms of autism? ›

What Are Some Possible Signs of Mild Autism?
  • Repetitive play or verbal expressiveness (echolalia)
  • A fixation on certain activities, ideas, or concepts.
  • A reluctance to engage in new experiences or to disrupt routines.
  • Aversion to certain forms of interaction, especially hugging or cuddling.
Jan 2, 2021

Is ASD a learning disability? ›

Autism is sometimes referred to as a spectrum, or autism spectrum disorder (ASD). Autism is not a learning disability, but around half of autistic people may also have a learning disability.

At what age can autism be diagnosed? ›

ASD can sometimes be detected at 18 months of age or younger. By age 2, a diagnosis by an experienced professional can be considered reliable. However, many children do not receive a final diagnosis until much older. Some people are not diagnosed until they are adolescents or adults.

Is autism a disability? ›

Autism is a neurological developmental disability with an estimated prevalence of one to two percent of the American and worldwide population. The diversity of the disability means that each person's individual experience of autism and needs for supports and services can vary widely.

Where does the autism gene come from? ›

But surprisingly, fathers did pass on substantially more than 50% of their variants. This suggests that autistic children might have inherited risk variants in regulatory regions from their fathers but not their mothers, the researchers report today in Science.

What gene mutations are in autism? ›

Describing the study in the journal, Molecular Psychiatry, researchers reported that a mutation – R451C, in the gene Neurologin-3, known to cause autism in humans – was found to provoke a higher level of communication among a network of transplanted human brain cells in mouse brains.

Is there a genetic test for the autism gene? ›

Because no single gene causes autism (more than 100 genes have clear ties to the disorder), there are no genetic tests available to diagnose autism. Many different changes and mutations in a person's genes can lead to them developing autism.

What is Aspergers called now? ›

The name for Asperger's Syndrome has officially changed, but many still use the term Asperger's Syndrome when talking about their condition. The symptoms of Asperger's Syndrome are now included in a condition called Autism Spectrum Disorder (ASD). ASD is now the name used for a wide range of autism-like disorders.

What is the difference between high-functioning autism and Aspergers? ›

Asperger's syndrome is closely related. Identified for the first time in 1944 by Viennese psychologist Hans Asperger, it wasn't officially classified as a unique disorder until 1994. It shares all the features of high-functioning autism except that people with Asperger's don't have early delays in developing language.

What came first Aspergers or autism? ›

The entry of autism and Asperger syndrome (AS) into the history of psychopathology was marked by extraordinary coincidences. Both disorders were first described by Kanner (1943) and Asperger (1944), respectively.

What is the best animal model for autism? ›

Rodents, most especially mice, are excellent animal models of autism because they have similar social relationships and neuroscience. When exposed to prenatal valproate (VPA) during pregnancy, the mice are born with basic deformities and the developmental delays seen symptomatically in humans5.

What is the mouse experiment? ›

Biologist John Calhoun's rodent experiments gripped a society consumed by fears of overpopulation. John Calhoun crouching inside Universe 25, his famous mouse-behavior experiment, February 1970. Officially, the colony was called the Mortality-Inhibiting Environment for Mice. Unofficially, it was called mouse heaven.

What type of study is a mouse model? ›

Mice are the most commonly used animal model for studying human disease, and for many good reasons: Mice are biologically very similar to humans and get many of the same diseases, for the same genetic reasons. Mice can be genetically manipulated to mimic virtually any human disease or condition.

What is a mouse principle? ›

As you move the mouse, the ball moves the rollers that turn one or both of the wheels. If you move the mouse straight up, only the y-axis wheel turns; if you move to the right, only the x-axis wheel turns. And if you move the mouse at an angle, the ball turns both wheels at once.

Which therapy is the most effective for autistic children? ›

Applied Behavior Analysis (ABA)

As the most commonly used therapy for children with autism, ABA develops social skills, improves language competency, and enhances good behavior using positive reinforcement techniques, meaningful rewards, and consequences.

Can you get an autistic dog? ›

Can a Dog Have Autism? While some of these behaviors are unique to humans, researchers have found that, in fact, ASD can occur in dogs, but it's called canine dysfunctional behavior (CDB). Researchers believe that canine dysfunctional behavior is an idiopathic condition, meaning that the cause is unknown.

Why are dogs good for autism? ›

Research from the University of Lincoln found that children with autism experience fewer meltdowns in the presence of a pet dog and their parents stress levels are significantly lowered, but we also see that dogs can make a difference to confidence levels, help reduce anxiety, improve communication and help families do ...

Why do we use mouse models in experiments? ›

Since mice share approximately 80 per cent of their genes with humans, modifying mouse DNA is a powerful method for creating animal models of human disease.

Why are mice used in genetic experiments? ›

Mice and rats have long served as the preferred species for biomedical research animal models due to their anatomical, physiological, and genetic similarity to humans. Advantages of rodents include their small size, ease of maintenance, short life cycle, and abundant genetic resources.

What was the 25 experiment with mice? ›

Expanding on his earlier studies, Calhoun devised his ultimate research experiment. In Universe 25, a population of mice would grow within a 2.7-square-meter enclosure consisting of four pens, 256 living compartments, and 16 burrows that led to food and water supplies.


1. Dr. Temple Grandin Tuesday! #TempleGrandin #Autism #ASD #AutismSpectrumDisorder #AutismSpectrum
(Autism Live)
2. The Autistic Brain: Thinking Across the Spectrum | Dr. Temple Grandin | Talks at Google
(Talks at Google)
3. Autism News: Clues about Autism from Mouse Pups
(Autism Live)
4. Stelios Georgiades explores heterogeneity in autism over time
(Spectrum Autism Research News)
5. André Fenton explores cognitive problems in autism
(Spectrum Autism Research News)
6. Temple Grandin: "The Autistic Brain"
(Chicago Humanities Festival)


Top Articles
Latest Posts
Article information

Author: Melvina Ondricka

Last Updated: 02/08/2023

Views: 5770

Rating: 4.8 / 5 (48 voted)

Reviews: 87% of readers found this page helpful

Author information

Name: Melvina Ondricka

Birthday: 2000-12-23

Address: Suite 382 139 Shaniqua Locks, Paulaborough, UT 90498

Phone: +636383657021

Job: Dynamic Government Specialist

Hobby: Kite flying, Watching movies, Knitting, Model building, Reading, Wood carving, Paintball

Introduction: My name is Melvina Ondricka, I am a helpful, fancy, friendly, innocent, outstanding, courageous, thoughtful person who loves writing and wants to share my knowledge and understanding with you.