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Gene: Auts2 MGI:1919847

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Gene Summary

Name:
autism susceptibility candidate 2
Synonyms:
2700063G02Rik,  A730011F23Rik,  D830032G16Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body length Auts2em1(IMPC)Wtsi HET Early adult 5.54×10-10
preweaning lethality, complete penetrance Auts2em1(IMPC)Wtsi HOM   Early adult 0.00
increased lean body mass Auts2em1(IMPC)Wtsi HET   Early adult 5.59×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

DSS Histology

Images

8 Images

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Human diseases caused by Auts2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Auts2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 26
Hyperactivity, Small for gestational age OMIM:615834

The table below shows human diseases predicted to be associated to Auts2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)
Perisylvian polymicrogyria OMIM:615752
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Lissencephaly, X-Linked, 1
Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:300067
Polymicrogyria, Bilateral Temporooccipital
Polymicrogyria, Delirium, Aggressive behavior OMIM:612691
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Symmetrical Thalamic Calcifications
Failure to thrive, Abnormality of neuronal migration, Cognitive impairment ORPHA:1314
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Pachygyria, Lissencephaly OMIM:614499
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Abnormality of neuronal migration, Attention deficit hyperactivit... OMIM:618709
Joubert Syndrome 13
Pachygyria OMIM:614173
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention defici... OMIM:620065
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Cortical Malformations, Occipital
Pachygyria, Polymicrogyria OMIM:614115
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Pachygyria, Polymicrogyria, Simplified gyral pat... OMIM:604317
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Polymicrogyria, Cognitive impairment OMIM:300388
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria OMIM:604213
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly ORPHA:352682
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia OMIM:618572
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Polymicrogyria, Abnormal cortical gyration OMIM:619602
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Lissencephaly, Periventricular ribbonlike heterotopia OMIM:618677
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Abnormal temper tantrums, Att... ORPHA:300573
Band Heterotopia
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment, Dysphagia OMIM:617008
Acalvaria
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration, Spina bifida ORPHA:945
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... OMIM:615191
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia OMIM:257100
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... ORPHA:101030
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Abnormality of neuronal migration, ... OMIM:300957
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Obesity, Abnormality of neuronal migration, Low frustration t... ORPHA:163681
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology ORPHA:99802
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph... OMIM:616212
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Leber Congenital Amaurosis
Encephalocele, Abnormality of neuronal migration ORPHA:65
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Glutathionuria
Tremor, Gray matter heterotopia, Action tremor OMIM:231950
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Failure to thrive, Irritability OMIM:617864
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Hydrocephalus, Gray matter hete... OMIM:614643
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Failure to thrive OMIM:616881
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy OMIM:207950
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele OMIM:164180
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Neurocutaneous Melanocytosis
Death in infancy, Meningocele, Abnormality of neuronal migration ORPHA:2481
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Tremor, Obesity, Gray matter heterotopia, Attention deficit hyp... OMIM:619312
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Failure to thrive, Polymicrogyria OMIM:617201
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... ORPHA:899
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Periventricular heterotopia, Self-biting OMIM:300624
Galloway-Mowat Syndrome
Pachygyria, Abnormality of neuronal migration, Cognitive impairment ORPHA:2065
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy... ORPHA:2211
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Stiff-Person Syndrome
Depression, Exaggerated startle response, Opisthotonus OMIM:184850
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Abnormal cortical gyration, Cognitive impairment, Dysphagia, Failur... OMIM:617527
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Aggressive behavior, Irritability, Self-injurious behavior, Failure ... OMIM:619833
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Type II lissence... ORPHA:370959
Peroxisome Biogenesis Disorder 13A (Zellweger)
Neonatal death, Gray matter heterotopia, Polymicrogyria OMIM:614887
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Dysphagia, Depression, Dystonia, Memo... ORPHA:845
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... ORPHA:35107
Man1B1-Cdg
Resting tremor, Polyphagia, Truncal obesity, Periventricular heterotopia ORPHA:397941
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Hydrocephalus OMIM:187600
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus ORPHA:2655
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Li... OMIM:615219
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Impulsivity, Attention deficit hyperactivity disorder, Periventricular h... OMIM:618929
Joubert Syndrome
Encephalocele, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Asparagine Synthetase Deficiency
Exaggerated startle response, Tremor, Simplified gyral pattern, Irritability, Failure to thrive OMIM:615574
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Inappropriate laughter, Cognitive impairment, Periventricular heterotopia OMIM:618476
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Pachygyria, Decreased body weight ORPHA:255138
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Compulsive behaviors, Attention deficit hyperactivity disorder, Perivent... OMIM:618918
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Agyria, Lissencephaly, Pachygyria, Polymicrogyria, Type II lissence... OMIM:253800
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
3C Syndrome
Death in infancy, Hydrocephalus, Abnormality of neuronal migration ORPHA:7
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... ORPHA:2671
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Abnormality of neuronal migration ORPHA:2318
Alg11-Cdg
Gray matter heterotopia, Failure to thrive, Opisthotonus ORPHA:280071
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Dysgyria OMIM:620327
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:157
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Vici Syndrome
Gray matter heterotopia, Death in infancy ORPHA:1493
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Agitation, Truncal titubation OMIM:618056
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Abnormal cortical gyration, Dystonia, Impaired oropharyngeal swallo... ORPHA:521426
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Failure to thrive, Small for gestational age, Gray matter heterotopia, Dy... OMIM:620024
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hydrocephalus, Lissencephaly OMIM:617822
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Dystonia OMIM:614105
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Abnormality of neuronal migration, Attention deficit hyperactivity dis... ORPHA:464311
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Polymicrogyria, Abnormality of neuronal migration OMIM:608836
Nijmegen Breakage Syndrome
Mental deterioration, Cachexia, Abnormality of neuronal migration, Attention deficit hyperactivit... ORPHA:647
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus ORPHA:1860
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:228308
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
Coffin-Lowry Syndrome
Death in early adulthood, Abnormality of neuronal migration ORPHA:192
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:261236
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Gray m... OMIM:619895
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration ORPHA:1454
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:247200
Orofaciodigital Syndrome Type 6
Tremor, Failure to thrive, Abnormality of neuronal migration ORPHA:2754
Koolen-De Vries Syndrome
Hyperactivity, Small for gestational age, Impulsivity, Gray matter heterotopia, Failure to thrive OMIM:610443
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormality of neuronal migration ORPHA:991
Holoprosencephaly
Failure to thrive in infancy, Abnormality of neuronal migration, Cognitive impairment, Dystonia ORPHA:2162
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
6Q Terminal Deletion Syndrome
Failure to thrive, Periventricular heterotopia, Obesity, Abnormality of neuronal migration, Gray ... ORPHA:75857
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Failure to thrive, Polymicrogyria, Dysphagia OMIM:214100
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Self-injurious behavior, Lissencephaly, Se... ORPHA:468631
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Dysphagia ORPHA:26791
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Bohring-Opitz Syndrome
Gray matter heterotopia, Failure to thrive OMIM:605039
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Attention deficit hyperactivity disorder OMIM:305450
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... ORPHA:98889
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Failure to thrive, Bruxism ORPHA:453499
Acromelic Frontonasal Dysostosis
Encephalocele, Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Self-injurious behavior ORPHA:314679
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het... OMIM:615287
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria, Attention deficit hyperactivity disorder OMIM:618820
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Dysphagia ORPHA:261250
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Aicardi Syndrome
Gray matter heterotopia, Pachygyria, Polymicrogyria, Spina bifida OMIM:304050
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A... ORPHA:352490
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Abnormal cortical gyration, Hydrocephalus, Microlissencephaly, Gray matter hete... OMIM:210710
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Vici Syndrome
Gray matter heterotopia, Failure to thrive, Dysphagia OMIM:242840
Orofaciodigital Syndrome I
Gray matter heterotopia, Myelomeningocele, Hydrocephalus, Abnormal cortical gyration OMIM:311200
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalus OMIM:236680
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353277
Fontaine Progeroid Syndrome
Death in infancy, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia, Neonatal d... OMIM:612289
Arima Syndrome
Gray matter heterotopia, Occipital meningocele OMIM:243910
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Bruxism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Bruxism ORPHA:352665
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly... OMIM:615948
Smith-Lemli-Opitz Syndrome
Hyperactivity, Periventricular heterotopia, Aggressive behavior, Failure to thrive, Self-mutilation OMIM:270400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dysphagia, Stereotypical hand wringing, Dystonia ORPHA:438213
Proteus Syndrome
Gray matter heterotopia, Cachexia ORPHA:744
Intellectual Developmental Disorder, Autosomal Dominant 26
Hyperactivity, Small for gestational age OMIM:615834
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Periventricular heterotopia, Pachygyria, Dysphagia OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Bruxism, Dysphagia, Failure to thrive, Abnormal repetitive mannerism... ORPHA:261537
Mowat-Wilson Syndrome
Periventricular heterotopia, Bruxism, Dysphagia, Decreased body weight, Polymicrogyria, Abnormal ... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Bruxism, Dysphagia, Failure to thrive, Abnormal repetitive mannerism... ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Auts2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Auts2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Auts2em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Auts2em1(IMPC)Wtsi Auts2em1(IMPC)Wtsi PMC6671969

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Auts2em1(IMPC)Wtsi Deletion Mice

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