Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased lean body mass Auts2em1(IMPC)Wtsi HET   Early adult 5.59×10-05
preweaning lethality, complete penetrance Auts2em1(IMPC)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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.

Phenotype associated images not available

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
Mental Retardation, Autosomal Dominant 26
Small for gestational age OMIM:615834
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age ORPHA:352490

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Pachygyria, Lissencephaly OMIM:614499
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Agyria, Subcortical band heterotopia, Gray matter heterotopia OMIM:615412
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Agyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Microcephaly 9, Primary, Autosomal Recessive
Impulsivity, Aggressive behavior, Simplified gyral pattern OMIM:614852
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Aggressive behavior, Gray matter heterotopia, Abnormality of neuronal migration, Poly... OMIM:604317
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria OMIM:615752
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Agyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly OMIM:300067
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Hydrocephalus, Gray matter heterotopia OMIM:600348
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly OMIM:611603
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Symmetrical Thalamic Calcifications
Cognitive impairment, Failure to thrive, Abnormality of neuronal migration ORPHA:1314
Joubert Syndrome 13
Pachygyria OMIM:614173
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Huntington Disease-Like 2
Dementia, Depression, Apathy, Action tremor, Weight loss, Irritability, Anxiety OMIM:606438
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Depression, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impairment ORPHA:401901
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Chudley-Mccullough Syndrome
Polymicrogyria, Hydrocephalus, Gray matter heterotopia OMIM:604213
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia ORPHA:352682
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia OMIM:618572
Maternal Hyperthermia-Induced Birth Defects
Cognitive impairment, Abnormality of neuronal migration ORPHA:2216
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, Inappropriate b... ORPHA:412066
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Anxiety, Dementia, Resting tremor OMIM:605909
Polymicrogyria, Bilateral Perisylvian, X-Linked
Cognitive impairment, Polymicrogyria OMIM:300388
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Lissencephaly OMIM:618677
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment OMIM:615483
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Inappropriate beha... ORPHA:309246
Cerebral Palsy, Spastic Quadriplegic, 3
Cognitive impairment, Gray matter heterotopia OMIM:617008
Intellectual Developmental Disorder, X-Linked 12
Tremor, Depression, Abnormality of neuronal migration, Truncal obesity, Small for gestational age... OMIM:300957
Polymicrogyria Due To Tubb2B Mutation
Pachygyria, Gray matter heterotopia, Polymicrogyria, Cognitive impairment, Perisylvian polymicrog... ORPHA:300573
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia OMIM:257100
Lissencephaly 5
Subcortical band heterotopia, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia OMIM:615191
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Hemimegalencephaly
Abnormal neuron morphology, Polymicrogyria, Pachygyria, Gray matter heterotopia ORPHA:99802
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Dementia, Exaggerated startle response OMIM:272800
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Bipolar affective disorder, Aggressive behavior, Resting tremor, Obesity, Irritability, A... ORPHA:3077
Mental Retardation, Autosomal Dominant 13
Pachygyria, Abnormality of neuronal migration OMIM:614563
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Myelomen... ORPHA:101030
Perry Syndrome
Tremor, Disinhibition, Depression, Apathy, Frontotemporal dementia, Weight loss, Anxiety, Inappro... OMIM:168605
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Polymicrogyria, Simplified gyral pattern, Microlissencep... OMIM:616212
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Stiff Person Spectrum Disorder
Exaggerated startle response, Agoraphobia, Anxiety, Emotional lability ORPHA:3198
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Gray matter heterotopia OMIM:187600
Cach Syndrome
Progressive neurologic deterioration, Apathy, Dysgyria, Irritability, Cognitive impairment ORPHA:135
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, 4-layered lissencephaly, Abnormality of neuronal migration ORPHA:89844
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Communicating hydrocephalus, Lissencephaly, Gray matter heterotopia OMIM:615219
Thanatophoric Dysplasia Type 2
Cognitive impairment, Abnormality of neuronal migration ORPHA:93274
Gm2-Gangliosidosis, Ab Variant
Apathy, Exaggerated startle response, Dementia OMIM:272750
Stiff-Person Syndrome
Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety OMIM:184850
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cognitive impairment, Abnormality of neuronal migration ORPHA:2063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Type II lissencephaly, Anencephaly, Gray matter heterotopia OMIM:615287
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Neurocutaneous Melanocytosis
Meningocele, Death in infancy, Abnormality of neuronal migration ORPHA:2481
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Walker-Warburg Syndrome
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyration, Macrog... ORPHA:899
Galloway-Mowat Syndrome
Cognitive impairment, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Subcortical heterotopia, Polymicrogyr... OMIM:614643
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia OMIM:207950
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyr... ORPHA:2211
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Lissencephaly Due To Lis1 Mutation
Pachygyria, Anterior predominant thick cortex pachygyria, Dysgyria, Agyria, Posterior predominant... ORPHA:95232
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia ORPHA:2655
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Periventricular heterotopia OMIM:618476
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:603671
Radio-Tartaglia Syndrome
Tremor, Aggressive behavior, Gray matter heterotopia, Impulsivity, Obesity OMIM:619312
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia OMIM:617397
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Desmosterolosis
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyration, Macrog... ORPHA:35107
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Congenital Muscular Dystrophy With Cerebellar Involvement
Polymicrogyria, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia ORPHA:370959
Asparagine Synthetase Deficiency
Exaggerated startle response, Failure to thrive, Simplified gyral pattern OMIM:615574
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Joubert Syndrome
Polymicrogyria, Hydrocephalus, Abnormality of neuronal migration ORPHA:475
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Decreased body weight, Periventricular heterotopia ORPHA:255138
3C Syndrome
Death in infancy, Hydrocephalus, Abnormality of neuronal migration ORPHA:7
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Abnormal cortical gyration, Failure to thrive, Exaggerated startle response OMIM:617527
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Impulsivity, Anxiety, Periventricular heterotopia OMIM:618929
Neu-Laxova Syndrome
Spina bifida, Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gy... ORPHA:2671
Man1B1-Cdg
Truncal obesity, Resting tremor, Periventricular heterotopia ORPHA:397941
Vici Syndrome
Death in infancy, Gray matter heterotopia ORPHA:1493
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Pachygyria, Hydrocephalus, Abnormality of neuronal migration ORPHA:157
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Abnormality of neuronal migration ORPHA:2318
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Alg11-Cdg
Opisthotonus, Failure to thrive, Gray matter heterotopia ORPHA:280071
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Lissencephaly, Gray matter heterotopia OMIM:617822
Van Maldergem Syndrome 1
Pachygyria, Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopi... OMIM:601390
Tay-Sachs Disease
Tremor, Depression, Exaggerated startle response, Anxiety, Memory impairment ORPHA:845
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response, Irritability, Emotional lability OMIM:608643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pachygyria, Type II lissencephaly, Polymicrogyria, Exaggerated startle response, Agyria, Lissence... OMIM:253800
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Abnormality of neuronal migration ORPHA:261236
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Koolen-De Vries Syndrome
Gray matter heterotopia, Impulsivity, Small for gestational age, Anxiety, Failure to thrive, Cons... OMIM:610443
Coffin-Lowry Syndrome
Self-injurious behavior, Abnormality of neuronal migration ORPHA:192
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response OMIM:268800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Anxiety ORPHA:438216
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Pachygyria, Hydrocephalus, Abnormality of neuronal migration ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration OMIM:608836
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia ORPHA:1860
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Nijmegen Breakage Syndrome
Mental deterioration, Cachexia, Abnormality of neuronal migration ORPHA:647
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Anxiety, Failure to thrive, Abnormality of neuronal migration ORPHA:464311
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Miller-Dieker Lissencephaly Syndrome
Pachygyria, Gray matter heterotopia, Agyria, Failure to thrive, Lissencephaly OMIM:247200
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Subcortical band heterotopia, Gray matter heterotopia OMIM:615546
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Polymicr... ORPHA:75857
Superficial Siderosis
Cognitive impairment, Memory impairment, Dysgyria, Dementia ORPHA:247245
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Periventricular heterotopia, Self-injurious behavior, Polymicrogyria, Simplified gyra... ORPHA:468631
Ritscher-Schinzel Syndrome 3
Periventricular nodular heterotopia, Death in infancy OMIM:619135
Pagod Syndrome
Meningocele, Spina bifida, Death in infancy, Abnormality of neuronal migration ORPHA:991
Cerebrofacioarticular Syndrome
Self-injurious behavior, Gray matter heterotopia ORPHA:314679
Holoprosencephaly
Cognitive impairment, Failure to thrive in infancy, Abnormality of neuronal migration ORPHA:2162
Familial Infantile Myoclonic Epilepsy
Periventricular nodular heterotopia ORPHA:352582
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Polymicrogyria, Gray matter heterotopia OMIM:618918
Orofaciodigital Syndrome Type 6
Tremor, Failure to thrive, Abnormality of neuronal migration ORPHA:2754
Bohring-Opitz Syndrome
Failure to thrive, Gray matter heterotopia OMIM:605039
Plaa-Associated Neurodevelopmental Disorder
Abnormal cortical gyration, Failure to thrive, Exaggerated startle response ORPHA:521426
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Failure to thrive, Gray matter heterotopia OMIM:214100
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia OMIM:311200
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Vici Syndrome
Failure to thrive, Gray matter heterotopia OMIM:242840
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per... ORPHA:98889
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Hydrolethalus Syndrome 1
Stillbirth, Gray matter heterotopia, Arrhinencephaly, Anencephaly, Abnormal cortical gyration, Se... OMIM:236680
Aicardi Syndrome
Polymicrogyria, Pachygyria, Spina bifida, Gray matter heterotopia OMIM:304050
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Abnormality of neuronal migration ORPHA:1454
Opitz-Kaveggia Syndrome
Hydrocephalus, Gray matter heterotopia OMIM:305450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Failure to thrive, Gray matter heterotopia ORPHA:453499
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Arima Syndrome
Occipital meningocele, Gray matter heterotopia OMIM:243910
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly, Polymicrogyria, Gray matter heterotopia OMIM:618820
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia, Death in infancy, Neonatal death, Hydroceph... OMIM:612289
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Stillbirth, Gray matter heterotopia OMIM:210710
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Smith-Lemli-Opitz Syndrome
Self-mutilation, Aggressive behavior, Failure to thrive, Periventricular heterotopia OMIM:270400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia ORPHA:352665
Orofaciodigital Syndrome Xiv
Holoprosencephaly, Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia OMIM:615948
Proteus Syndrome
Cachexia, Gray matter heterotopia ORPHA:744
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Mowat-Wilson Syndrome
Periventricular heterotopia, Decreased body weight, Polymicrogyria, Anxiety, Happy demeanor ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Polymicrogyria, Periventricular heterotopia, Failure to thrive, Happy demeanor ORPHA:261537
Genitopatellar Syndrome
Periventricular heterotopia OMIM:606170
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response ORPHA:438213
Mental Retardation, Autosomal Dominant 26
Small for gestational age OMIM:615834
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Polymicrogyria, Periventricular heterotopia, Failure to thrive, Happy demeanor ORPHA:261552
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age ORPHA:352490

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

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

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