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Gene: Auts2 MGI:1919847

Gene Summary

Name:

autism susceptibility candidate 2

Synonyms:

2700063G02Rik, A730011F23Rik, D830032G16Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased body length	Auts2^{em1(IMPC)Wtsi}	HET	Early adult	5.54×10^-10
increased lean body mass	Auts2^{em1(IMPC)Wtsi}	HET	Early adult	5.59×10^-05
preweaning lethality, complete penetrance	Auts2^{em1(IMPC)Wtsi}	HOM	Early adult	0.00

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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.

Human diseases associated with Auts2 (2 diseases)
Human diseases predicted to be associated with Auts2 (201 diseases)

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	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)	Auts2^{em1(IMPC)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Auts2^{em1(IMPC)Wtsi} Auts2^{em1(IMPC)Wtsi}	PMC6671969

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MGI Allele	Allele Type	Produced
Auts2^{em1(IMPC)Wtsi}	Deletion	Mice

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