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
increased lean body mass Auts2em1(IMPC)Wtsi HET   Early adult 5.59×10-05
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

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.

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
Autism Spectrum Disorder Due To Auts2 Deficiency
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Hyperactivity 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
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Lissencephaly, X-Linked, 1
Death in infancy, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Polymicrogyria, Bilateral Temporooccipital
Delirium, Aggressive behavior, Polymicrogyria OMIM:612691
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Pachygyria, Lissencephaly OMIM:614499
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Cognitive impairment, Failure to thrive ORPHA:1314
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Joubert Syndrome 13
Pachygyria OMIM:614173
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Pachygyria, Agyria, Gray matter heterotopia,... OMIM:611603
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
Lissencephaly, Failure to thrive, Polymicrogyria, Self-mutilation, Abnormality of neuronal migrat... OMIM:604317
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Overweight, Motor ... OMIM:620065
Polymicrogyria, Bilateral Perisylvian, X-Linked
Polymicrogyria, Cognitive impairment, Pseudobulbar paralysis OMIM:300388
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Abnormal cortical gyration, Polymicrogyria OMIM:619602
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria OMIM:604213
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia ORPHA:352682
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia OMIM:618572
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Lissencephaly, Periventricular ribbonlike heterotopia OMIM:618677
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Polymicrogyria, Attention deficit hyperactivity disorder, Cognitive imp... ORPHA:300573
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)
Perisylvian polymicrogyria OMIM:615752
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Band Heterotopia
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria OMIM:600348
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Resting tremor, Obesity, Tremor, Irritability, Aggressive behavio... ORPHA:3077
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Dysphagia, Cognitive impairment OMIM:617008
Acalvaria
Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment, Exaggerated startle... ORPHA:309246
Lissencephaly 5
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic... OMIM:615191
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death OMIM:257100
Subependymal Nodular Heterotopia
Occipital encephalocele, Polymicrogyria, Myelomeningocele, Nasofrontal encephalocele, Abnormality... ORPHA:101030
Intellectual Developmental Disorder, X-Linked 12
Depression, Tremor, Abnormality of neuronal migration, Truncal obesity, Increased body mass index... OMIM:300957
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, Obesity, Low frustration tolerance, Self-mutilati... ORPHA:163681
Hemimegalencephaly
Pachygyria, Abnormal neuron morphology, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Lissencephaly, Simpl... 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
Abnormality of neuronal migration, Encephalocele ORPHA:65
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Failure to thrive, Exaggerated startle response, Irritability OMIM:617864
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Glutathionuria
Gray matter heterotopia, Action tremor, Tremor OMIM:231950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern 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
Polymicrogyria, Type II lissencephaly, Encephalocele, Death in childhood, Death in infancy, Hydro... OMIM:614643
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Exaggerated startle response, Irritability OMIM:616881
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly ORPHA:89844
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria OMIM:617622
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... OMIM:608643
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Gray matter heterotopia OMIM:207950
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele OMIM:164180
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Failure to thrive, Polymicrogyria OMIM:617201
Radio-Tartaglia Syndrome
Obesity, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Gray m... OMIM:619312
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Meningocele, Death in infancy ORPHA:2481
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Fragile X Syndrome
Periventricular heterotopia, Recurrent hand flapping, Hyperactivity, Self-biting OMIM:300624
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Cognitive impairment, Pachygyria ORPHA:2065
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Exaggerated startle response OMIM:272750
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Failure to thrive, Cognitive impairment, Exaggerated startle response... OMIM:617527
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, Pac... ORPHA:899
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... ORPHA:2211
Tay-Sachs Disease
Mania, Memory impairment, Depression, Laryngeal dystonia, Short attention span, Tremor, Exaggerat... ORPHA:845
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hydrocephalus, Gray matter hetero... ORPHA:370959
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Failure to thrive, Periventricular heterotopia, Irritability, Aggressive... OMIM:619833
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Neonatal death, Polymicrogyria OMIM:614887
Man1B1-Cdg
Polyphagia, Periventricular heterotopia, Resting tremor, Truncal obesity ORPHA:397941
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Simplified gy... OMIM:615219
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus, Neonatal death OMIM:187600
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus ORPHA:2655
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Short attention span, Exaggerated startle response ORPHA:438216
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Periventricular heterotopia, I... OMIM:618929
Joubert Syndrome
Abnormality of neuronal migration, Hydrocephalus, Encephalocele, Polymicrogyria ORPHA:475
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, Pac... ORPHA:35107
Asparagine Synthetase Deficiency
Failure to thrive, Tremor, Irritability, Exaggerated startle response, Simplified gyral pattern OMIM:615574
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Exaggerated startle response, Pachygyria, Agyria, Lissence... OMIM:253800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Inappropriate laughter, Periventricular heterotopia, Cognitive impairment OMIM:618476
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Decreased body weight ORPHA:255138
Periventricular Nodular Heterotopia 9
Polymicrogyria, Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Co... OMIM:618918
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
3C Syndrome
Abnormality of neuronal migration, Hydrocephalus, Death in infancy ORPHA:7
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Hydrocephalus, Encephalocele ORPHA:2318
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Dysgyria, Tremor, Exaggerated startle response OMIM:620327
Alg11-Cdg
Gray matter heterotopia, Opisthotonus, Failure to thrive ORPHA:280071
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Polymicrogyria ORPHA:157
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Agitation, Exaggerated startle response OMIM:618056
Vici Syndrome
Gray matter heterotopia, Death in infancy ORPHA:1493
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Spina bifida, Pach... ORPHA:2671
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Plaa-Associated Neurodevelopmental Disorder
Abnormal cortical gyration, Failure to thrive, Exaggerated startle response, Dystonia, Impaired o... ORPHA:521426
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Irritability, Hyperactivity, Exaggerated startle response, Dystonia, Impulsivity OMIM:620423
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity OMIM:219090
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Small for gestational age, Failure to thrive, Pachygyria, Dystonia, Gray matter heterotopia, Fron... OMIM:620024
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... OMIM:601390
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hydrocephalus, Lissencephaly OMIM:617822
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Abnormality of neuronal migration, Attention deficit hyperactivity disorder, M... ORPHA:464311
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Dystonia, Periventricular heterotopia OMIM:614105
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Death in infancy, Polymicrogyria OMIM:608836
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Mental deterioration, Attention deficit hyperactivity disorder... ORPHA:647
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Polymicrogyria ORPHA:228308
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus ORPHA:1860
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Death in early adulthood ORPHA:192
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Holoprosencephaly ORPHA:261236
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Dystonia, Small for gestational age, Pachygyria OMIM:251300
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Occipital encephalocele, Hydrocephalus ORPHA:1454
Koolen-De Vries Syndrome
Failure to thrive, Hyperactivity, Gray matter heterotopia, Small for gestational age, Impulsivity OMIM:610443
Holoprosencephaly 14
Alobar holoprosencephaly, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia, Aq... OMIM:619895
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Pachygyria, Gray matter heterotopia, Agyria, Lissencephaly OMIM:247200
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia OMIM:620475
Pagod Syndrome
Encephalocele, Death in infancy, Abnormality of neuronal migration, Spina bifida, Meningocele ORPHA:991
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Failure to thrive, Tremor ORPHA:2754
Holoprosencephaly
Failure to thrive in infancy, Dystonia, Cognitive impairment, Abnormality of neuronal migration ORPHA:2162
6Q Terminal Deletion Syndrome
Failure to thrive, Polymicrogyria, Obesity, Periventricular heterotopia, Abnormality of neuronal ... ORPHA:75857
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Dysphagia, Failure to thrive, Polymicrogyria OMIM:214100
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Polymicrogyria, Periventricular heterotopia, Severe failure to thrive, P... ORPHA:468631
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Hyperekplexia 1
Exaggerated startle response OMIM:149400
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
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Bohring-Opitz Syndrome
Gray matter heterotopia, Failure to thrive OMIM:605039
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response, Irritability OMIM:618367
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Attention deficit hyperactivity disorder OMIM:305450
Bilateral Perisylvian Polymicrogyria
Bilateral perisylvian polymicrogyria, Perisylvian predominant thick cortex pachygyria, Pseudobulb... ORPHA:98889
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353281
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Bruxism, Failure to thrive ORPHA:453499
Cerebrofacioarticular Syndrome
Self-injurious behavior, Gray matter heterotopia ORPHA:314679
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia, Obesity OMIM:620654
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Attention deficit hyperactivity disorder, Polymicrogyria OMIM:618820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Communica... OMIM:615287
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Dysphagia ORPHA:261250
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly ORPHA:3186
Aicardi Syndrome
Pachygyria, Gray matter heterotopia, Spina bifida, Polymicrogyria OMIM:304050
Autism Spectrum Disorder Due To Auts2 Deficiency
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi... ORPHA:352490
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration, Hydrocephalus, Myelomeningocele OMIM:311200
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Pachygyria, Polymicrogyria, Death in childhood, Death in infancy, Mic... OMIM:210710
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Vici Syndrome
Gray matter heterotopia, Dysphagia, Failure to thrive OMIM:242840
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Stillbirth, Gray matter heterotopia, Anencephaly, Severe hydrocephalus OMIM:236680
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353277
Fontaine Progeroid Syndrome
Periventricular heterotopia, Death in infancy, Neonatal death, Hydrocephalus, Gray matter heterot... OMIM:612289
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia, Encephalocele OMIM:603671
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
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response OMIM:619522
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Polymicrogyria, Periventricular heterotopia, Holoprosencephaly, Simplifi... OMIM:615948
Smith-Lemli-Opitz Syndrome
Failure to thrive, Periventricular heterotopia, Self-mutilation, Aggressive behavior, Hyperactivity OMIM:270400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Dysphagia, Exaggerated startle response, Stereotypical hand wringing ORPHA:438213
Proteus Syndrome
Gray matter heterotopia, Cachexia ORPHA:744
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Hyperactivity OMIM:615834
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia, Dysphagia OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Failure to thrive, Polymicrogyria, Bruxism, Periventricular heterotopia, Motor stereotypy, Dysphagia ORPHA:261537
Mowat-Wilson Syndrome
Polymicrogyria, Bruxism, Periventricular heterotopia, Decreased body weight, Dysphagia, Motor ste... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Polymicrogyria, Bruxism, Periventricular heterotopia, Motor stereotypy, Dysphagia 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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