Gene Summary

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

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

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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

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
Intellectual Developmental Disorder, 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
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Pachygyria, Lissencephaly OMIM:614499
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... ORPHA:280397
Microcephaly 9, Primary, Autosomal Recessive
Simplified gyral pattern, Impulsivity, Aggressive behavior OMIM:614852
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Impulsivity, Polymicrogyria, Lissencephaly, Aggressive behavior, Abnorma... OMIM:604317
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria OMIM:615752
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Death in infancy, Pachygyria OMIM:300067
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia OMIM:600348
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Cortical Malformations, Occipital
Pachygyria, Polymicrogyria OMIM:614115
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Huntington Disease-Like 2
Apathy, Action tremor, Depression, Anxiety, Weight loss, Dystonia, Irritability, Dementia OMIM:606438
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Failure to thrive, Cognitive impairment ORPHA:1314
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria OMIM:611603
Joubert Syndrome 13
Pachygyria OMIM:614173
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Memory impairment, Tremor, Dys... ORPHA:401901
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Athetosis, Dementia OMIM:615483
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Neonatal death, Polymicrogyria OMIM:619602
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Anxiety, Writer's cramp, Tremor OMIM:159900
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Polymicrogyria OMIM:604213
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele ORPHA:352682
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Anxiety, Panic attack, Writer's cramp, Personality disorder, Dystonia ORPHA:36899
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia OMIM:618572
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Depression, Anxiety, Dystonia, Dementia OMIM:605909
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Polymicrogyria, Bilateral Perisylvian, X-Linked
Polymicrogyria, Cognitive impairment OMIM:300388
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... ORPHA:412066
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
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
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... ORPHA:168782
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Depression, Increased body mass index, Anxiety, Truncal obesity, Tremo... OMIM:300957
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death OMIM:257100
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Subependymal Nodular Heterotopia
Myelomeningocele, Gray matter heterotopia, Nasofrontal encephalocele, Polymicrogyria, Meningocele... ORPHA:101030
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment OMIM:617008
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Cognitive impairment, Polymicrogyria, Lissen... ORPHA:300573
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Hemimegalencephaly
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Perry Syndrome
Apathy, Depression, Anxiety, Inappropriate behavior, Tremor, Suicidal ideation, Disinhibition, Dy... OMIM:168605
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Polymicrogyria, Lissencephaly, Simplified gyral pattern,... OMIM:616212
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Depression, Anxiety, Dystonia OMIM:616398
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Cntnap2-Related Developmental And Epileptic Encephalopathy
Progressive language deterioration, Self-mutilation, Mental deterioration, Low frustration tolera... ORPHA:163681
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability ORPHA:3198
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response, Dementia OMIM:272750
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Periventricular nodular heterotopia, Obesity, Memory impairment OMIM:619737
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly ORPHA:89844
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly OMIM:615219
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Type II lissencephaly, Occipital encephalocele OMIM:615287
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety OMIM:184850
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia OMIM:164180
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Spina bifida, Cervical myelopathy OMIM:207950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Gray matter heterotopia, Encephalocele, Polymicrogyria, Type II lissencephaly, Agy... OMIM:614643
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Death in infancy, Meningocele ORPHA:2481
Fragile X Syndrome
Periventricular heterotopia, Self-biting OMIM:300624
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Walker-Warburg Syndrome
Hydrocephalus, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... ORPHA:899
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria, Cognitive impairment ORPHA:2065
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... ORPHA:2211
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Encephalocele, Gray matter heterotopia OMIM:603671
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Desmosterolosis
Hydrocephalus, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... ORPHA:35107
Radio-Tartaglia Syndrome
Gray matter heterotopia, Impulsivity, Tremor, Aggressive behavior, Obesity OMIM:619312
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Periventricular heterotopia OMIM:618476
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Failure to thrive, Periventricular heterotopia, Self-injurious behavior, Aggressive behavior, Irr... OMIM:619833
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Type II lissencephaly, Occipital encephal... ORPHA:370959
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia ORPHA:2655
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Thanatophoric Dysplasia, Type I
Hydrocephalus, Gray matter heterotopia, Neonatal death OMIM:187600
Asparagine Synthetase Deficiency
Simplified gyral pattern, Failure to thrive, Exaggerated startle response OMIM:615574
Joubert Syndrome
Abnormality of neuronal migration, Hydrocephalus, Polymicrogyria, Encephalocele ORPHA:475
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Periventricular heterotopia, Anxiety, Self-injurious behavior OMIM:618929
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Exaggerated startle response, Abnormal cortical gyration, Cognitive impairment OMIM:617527
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Decreased body weight, Pachygyria ORPHA:255138
3C Syndrome
Abnormality of neuronal migration, Hydrocephalus, Death in infancy ORPHA:7
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Depression, Anxiety, Memory impairment, Tremor,... ORPHA:845
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2671
Man1B1-Cdg
Resting tremor, Periventricular heterotopia, Truncal obesity ORPHA:397941
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Hydrocephalus, Encephalocele ORPHA:2318
Alg11-Cdg
Failure to thrive, Gray matter heterotopia, Opisthotonus ORPHA:280071
Vici Syndrome
Gray matter heterotopia, Death in infancy ORPHA:1493
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Pachygyria, Hydrocephalus, Polymicrogyria ORPHA:157
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Anxiety, Exaggerated startle response ORPHA:438216
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Gray matter heterotopia, Lissencephaly OMIM:617822
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Failure to thrive, Gray matter heterotopia, Small for gestational age, Frontal polymicrogyria, Pa... OMIM:620024
Van Maldergem Syndrome 1
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Polymicrogyria, Type II lissencephaly, Agyria, Lissencephaly, Pachy... OMIM:253800
Koolen-De Vries Syndrome
Conspicuously happy disposition, Failure to thrive, Gray matter heterotopia, Impulsivity, Small f... OMIM:610443
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Self-injurious behavior ORPHA:261236
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Death in infancy, Polymicrogyria OMIM:608836
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Self-injurious behavior ORPHA:192
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Pachygyria, Hydrocephalus, Polymicrogyria ORPHA:228308
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia ORPHA:1860
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Failure to thrive, Anxiety, Small for gestational age ORPHA:464311
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Nijmegen Breakage Syndrome
Mental deterioration, Cachexia, Abnormality of neuronal migration ORPHA:647
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia OMIM:615546
Holoprosencephaly
Abnormality of neuronal migration, Dystonia, Failure to thrive in infancy, Cognitive impairment ORPHA:2162
Pagod Syndrome
Death in infancy, Meningocele, Abnormality of neuronal migration, Encephalocele, Spina bifida ORPHA:991
Holoprosencephaly 14
Periventricular heterotopia, Gray matter heterotopia, Alobar holoprosencephaly, Hydrocephalus, Aq... OMIM:619895
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Dystonia, Exaggerated startle response, Abnormal cortical gyration ORPHA:521426
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Hydrocephalus, Occipital encephalocele ORPHA:1454
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Self-injurious behavior, Severe failure to thrive, Polymicrogyria, L... ORPHA:468631
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Failure to thrive, Tremor ORPHA:2754
6Q Terminal Deletion Syndrome
Failure to thrive, Periventricular heterotopia, Gray matter heterotopia, Polymicrogyria, Abnormal... ORPHA:75857
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria OMIM:618918
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Self-injurious behavior ORPHA:314679
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Peroxisome Biogenesis Disorder 1A (Zellweger)
Death in childhood, Gray matter heterotopia, Polymicrogyria OMIM:214100
Bohring-Opitz Syndrome
Failure to thrive, Gray matter heterotopia OMIM:605039
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Vici Syndrome
Failure to thrive, Gray matter heterotopia OMIM:242840
Aicardi Syndrome
Spina bifida, Pachygyria, Gray matter heterotopia, Polymicrogyria OMIM:304050
Hydrolethalus Syndrome 1
Gray matter heterotopia, Anencephaly, Arrhinencephaly, Abnormal cortical gyration, Severe hydroce... OMIM:236680
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly ORPHA:3186
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Opitz-Kaveggia Syndrome
Hydrocephalus, Gray matter heterotopia OMIM:305450
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Abnormal cortical gyration OMIM:311200
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Failure to thrive, Gray matter heterotopia ORPHA:453499
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
Gray matter heterotopia, Polymicrogyria, Holoprosencephaly OMIM:618820
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Gray matter heterotopia, Stillbirth OMIM:210710
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia, Hydrocephalus, Neonatal death, Death in inf... OMIM:612289
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Holoprosencephaly, Polymicrogyria, Simplified gyral pattern, Occipit... OMIM:615948
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
Smith-Lemli-Opitz Syndrome
Failure to thrive, Periventricular heterotopia, Aggressive behavior, Self-mutilation OMIM:270400
Proteus Syndrome
Cachexia, Gray matter heterotopia ORPHA:744
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia ORPHA:438213
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Mowat-Wilson Syndrome
Happy demeanor, Periventricular heterotopia, Decreased body weight, Anxiety, Polymicrogyria ORPHA:2152
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Happy demeanor, Periventricular heterotopia, Failure to thrive, Polymicrogyria ORPHA:261537
Genitopatellar Syndrome
Periventricular heterotopia OMIM:606170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Happy demeanor, Periventricular heterotopia, Failure to thrive, Polymicrogyria ORPHA:261552
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age OMIM:615834
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 Deletion Mice

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