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Gene: Arhgap32 MGI:2450166

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Rho GTPase activating protein 32
Synonyms:
3426406O18Rik,  GC-GAP,  Grit,  PX-RICS,  p200RhoGAP

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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 Arhgap32 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Arhgap32 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608636
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608631
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Seizure, Reduced social reciprocity OMIM:618103
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Seizure, Bruxism, Inappropriate laughter, Chorea, Focal-onset seizure, Aggressive behavior, Ataxi... OMIM:619150
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity, Abnormal social behavior ORPHA:436151
Childhood Disintegrative Disorder
Mental deterioration, Seizure, Abnormal emotion, Reduced social reciprocity, Motor deterioration,... ORPHA:168782
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Reduced social reciprocity OMIM:606053
Female Restricted Epilepsy With Intellectual Disability
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... ORPHA:101039
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Aggressive behavior, Bilateral tonic-clonic seizure, Motor stereotypy, Status... OMIM:617171
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Myoclonus, Reduced social reciprocity, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:617787
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Cognitive impai... ORPHA:401901
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Seizure, Reduced social reciprocity, Dystonia, Motor stereotypy OMIM:617820
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit... ORPHA:275864
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Frontotemporal dementia, Emotion... OMIM:172700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Memory impairment, Inappropriate behavior, Myoclonus, Disinhibition, Aggressive behavior, Frontot... OMIM:600795
Foxg1 Syndrome
Bruxism, Infantile spasms, Myoclonus, Focal-onset seizure, Reduced social reciprocity, Stereotypi... ORPHA:561854
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:300425
Pitt-Hopkins-Like Syndrome 1
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Reduced social r... OMIM:610042
N-Acetylaspartate Deficiency
Seizure, Short attention span, Self-mutilation, Truncal ataxia, Motor stereotypy OMIM:614063
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Ataxia OMIM:618709
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Seizure, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Hsd10 Disease
Seizure, Short attention span, Myoclonus, Tremor, Ataxia, Dysphagia, Choreoathetosis, Abnormal so... ORPHA:391417
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ... OMIM:608049
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Focal impaired awareness seizure, Intention tremor, Reduced social reciprocity, Attention deficit... ORPHA:137831
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Recurrent hand flapping, Gait ataxia, Dysphagia, Bilateral tonic-clonic seizure, Mot... OMIM:617862
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Oculogyric crisis, Myoclonic seizure, Seizure, Bruxism, Inappropriate la... OMIM:614254
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Seizure, Infantile spasms, Irritability, Tonic seizure, Nocturnal seizures, Motor stereotypy, Foc... OMIM:617393
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Seizure, Confusion, Myoclonus, Disinhibition, Ataxia, Dementia, Semantic demen... ORPHA:1020
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Chorea, G... OMIM:618917
Atypical Rett Syndrome
Restrictive behavior, Pill-rolling tremor, Impaired pain sensation, Neonatal seizure, Limb myoclo... ORPHA:3095
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Seizure, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Paroxysmal bu... OMIM:618718
Cdkl5-Deficiency Disorder
Impaired pain sensation, Bruxism, Inappropriate laughter, Infantile spasms, Stereotypical hand wr... ORPHA:505652
Hyperprolinemia, Type I
Seizure, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy, Status epilepticus OMIM:239500
Developmental And Epileptic Encephalopathy 107
Tonic seizure, Motor stereotypy, Clonic seizure, Seizure OMIM:620033
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Reduced social reciprocity, Aggressive behavior, Ataxi... OMIM:619738
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Focal impaired awareness seizure, Epileptic spasm, Recurrent hand flapping, Ga... OMIM:619580
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Abnormal eating behavior, Recurrent hand fl... ORPHA:544254
11Q22.2Q22.3 Microdeletion Syndrome
Seizure, Short attention span, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... ORPHA:444002
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Emotional lability, Disinhibition, Frontotemporal dementia, Dysphagia, Motor stereotypy OMIM:612069
Childhood Absence Epilepsy
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (... ORPHA:64280
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Motor tics, Nocturna... OMIM:619725
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Seizure, Recurrent hand flapping, ... ORPHA:449291
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Status epilepticus, Seizure OMIM:617830
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:620065
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Seizure, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Myoclonic seizure, Typical absence seizure, Atonic seizure, Seizure, Myoclo... ORPHA:168491
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... OMIM:618141
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic seizure, Seizure OMIM:616341
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Motor stereotypy, Excessive shyness, Seizure ORPHA:280763
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Oculogyric crisis, Generalized myoclonic seizure, Typical absence seizur... ORPHA:208447
Myoclonic-Astatic Epilepsy
Atonic seizure, Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset seizure, T... ORPHA:1942
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Clonic seizure, Seizure OMIM:615282
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Resting tremor, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Reduced social reciproci... OMIM:615157
Christianson Syndrome
Generalized-onset seizure, Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Dyston... ORPHA:85278
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Focal hyperkinetic seizure, Paroxysmal dystonia, Attention deficit hyperactivity diso... ORPHA:98784
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:300495
Intellectual Developmental Disorder, Autosomal Dominant 7
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inappropriate laughter, S... OMIM:614104
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Seizure, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy, Seizure OMIM:618906
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Seizure, Emotional lability, Dysphagia, Motor deterioration, Cognitive impairment, De... ORPHA:79264
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Seizure, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal... ORPHA:228402
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Bilateral tonic-cl... OMIM:619092
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Chorea, Recurrent hand flapping, Myoc... OMIM:617600
Intellectual Developmental Disorder, Autosomal Dominant 56
Seizure, Short attention span, Myoclonus, Reduced social reciprocity, Attention deficit hyperacti... OMIM:617854
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte... OMIM:620292
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Seizure, Confusion, Emotional lability, Cognitive impairment, Ataxia, Delirium, Motor stereotypy,... ORPHA:927
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Seizure, Reduced social reciprocity OMIM:617051
Lopes-Maciel-Rodan Syndrome
Seizure, Bruxism, Tremor, Dysphagia, Dystonia, Motor stereotypy, Focal impaired awareness seizure... OMIM:617435
Rett Syndrome, Congenital Variant
Seizure, Bruxism, Chorea, Reduced social reciprocity, Irritability, Tongue thrusting, Dystonia, A... OMIM:613454
Xq28 (MECP2) duplication
Depression, Seizure, Gait ataxia, Dysphagia, Motor stereotypy DECIPHER:45
Baker-Gordon Syndrome
Self-injurious behavior, Ataxia, Dystonia, Motor stereotypy, Choreoathetosis OMIM:618218
Young-Onset Parkinson Disease
Depression, Frontal lobe dementia, Restless legs, Agitation, Short attention span, Tremor, Reduce... ORPHA:2828
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Seizure, Short attention span, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620242
Intellectual Developmental Disorder, X-Linked 98
Atonic seizure, Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body roc... OMIM:300912
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Depression, Seizure, Progressive psychomotor deterioration, Chorea, Short atte... ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form
Seizure, Progressive psychomotor deterioration, Short attention span, Emotional lability, Progres... ORPHA:309263
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Seizure, Limb ataxia, Attention deficit hyperactivity disorder, Dysphagi... OMIM:617695
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Myoclonic seizure, Motor stereotypy OMIM:619690
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Seizure, Reduced social reciprocity, Diminished ability to concentrate, Attent... OMIM:615656
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Polyphagia, Motor stereotypy, Seizure OMIM:613886
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Seizure, Tremor, Self-mutilation, Bilateral tonic-clonic seizure, Motor stereotypy ORPHA:457240
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Seizure, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Short attenti... ORPHA:98794
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Depression, Generalized non-motor (absence) seizure, Hostility, Seizure, Brux... OMIM:300260
Choreoacanthocytosis
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Lingual dy... ORPHA:2388
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Seizure, Obsessive-compulsive trait, Aggressive behavior, Attention deficit h... OMIM:618825
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy, Seizure OMIM:618347
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Aggressive behavior, Reduced social reciprocity OMIM:616083
Autism Spectrum Disorder Due To Auts2 Deficiency
Seizure, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity,... ORPHA:352490
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Head tremor, Infantile spasms, Tonic seizure, Bilatera... OMIM:619428
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Short attention span, Tremor, Aggressive behavior, Attention deficit hyperactivity disor... OMIM:618342
Shukla-Vernon Syndrome
Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsi... OMIM:301029
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... OMIM:615637
Oromandibular Dystonia
Blepharospasm, Depression, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Ling... ORPHA:93958
Proximal 16P11.2 Microdeletion Syndrome
Seizure, Reduced social reciprocity, Attention deficit hyperactivity disorder, Dystonia, Motor st... ORPHA:261197
48,Xxyy Syndrome
Depression, Seizure, Tremor, Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy ORPHA:10
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Seizure, Bruxism, Chorea, Paroxysmal dystonia, Dystonia, Motor stereotyp... OMIM:618004
Nmda Receptor Encephalitis
Mania, Depression, Memory impairment, Oculogyric crisis, Seizure, Generalized-onset seizure, Conf... ORPHA:217253
Metachromatic Leukodystrophy, Late Infantile Form
Seizure, Gait ataxia, Emotional lability, Progressive gait ataxia, Dystonia, Abnormal social beha... ORPHA:309256
Niemann-Pick Disease Type C
Mental deterioration, Limb dystonia, Axial dystonia, Cognitive impairment, Ataxia, Dysphagia, Abn... ORPHA:646
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ... ORPHA:411986
Cerebral Creatine Deficiency Syndrome 1
Seizure, Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:300352
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Pain insensitivity, Seizure, Stereotypical hand wringing, Skin-picking, ... OMIM:600430
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Smith-Magenis Syndrome
Pain insensitivity, Head-banging, Impaired pain sensation, Seizure, Onychotillomania, Self-mutila... OMIM:182290
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... ORPHA:313892
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Seizure, Short attention span, Emotional lability, Reduced social reciprocity, Focal-onset seizur... ORPHA:300570
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:620502
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Myoclonus, Irritability, Ton... OMIM:608643
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Blepharophimosis-Impaired Intellectual Development Syndrome
Seizure, Low frustration tolerance, Overfriendliness, Attention deficit hyperactivity disorder, M... OMIM:619293
Houge-Janssens Syndrome 3
Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ... OMIM:618354
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Seizure, Recurrent hand flapping, Aggressive behavior, Attention deficit... OMIM:300986
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Infantile spasms, Hair-pulling, Aggressive behavior, Generalize... OMIM:616393
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Focal myoclonic seizure, Dysmetria, Aggressive behavior, Ataxia, Nonprogressiv... ORPHA:314647
Cri-Du-Chat Syndrome
Oppositional defiant disorder, Short attention span, Self-mutilation, Overfriendliness, Aggressiv... OMIM:123450
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability ORPHA:391307
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Seizure, Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy OMIM:300486
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:617808
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Pain insensitivity, Seizure, Tremor, Aggressive behavior, Attention defi... OMIM:617061
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Motor stereotypy, Impaired pain sensation, Overfriendliness OMIM:616579
Den Hoed-De Boer-Voisin Syndrome
Focal myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Short attention span, ... OMIM:619229
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:618504
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Irritability, Hair-pulling, Dysphagia, Hyperactivity, Myoclonic spasms, Bilater... ORPHA:447997
Ritscher-Schinzel Syndrome 4
Chorea, Aggressive behavior, Dysphagia, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Motor ... OMIM:619435
48,Xxxy Syndrome
Seizure, Tremor, Irritability, Attention deficit hyperactivity disorder, Abnormal aggressive, imp... ORPHA:96263
Intellectual Developmental Disorder, Autosomal Dominant 52
Seizure, Obsessive-compulsive trait, Irritability, Hyperactivity, Pica, Motor stereotypy OMIM:617796
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Generalized-onset seizure, Gait ataxia, Dystonia, Motor stereotypy OMIM:617807
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Myoclonic seizure, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:619877
Rett Syndrome
Seizure, Bruxism, Stereotypical hand wringing, Dystonia, Progressive language deterioration, Moto... ORPHA:778
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Seizure, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy OMIM:618430
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy, Seizure, Tremor ORPHA:238750
Radio-Tartaglia Syndrome
Seizure, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Ataxia... OMIM:619312
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Seizure ORPHA:85277
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Bilateral tonic-clonic ... OMIM:615802
Inverted Duplicated Chromosome 15 Syndrome
Seizure, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Infantile spasms, Motor stereotypy, Myoclonic seizure OMIM:618205
Alazami Syndrome
Seizure, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stereotypy ORPHA:319671
Potocki-Lupski Syndrome
Seizure, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Motor stereotypy, Seizure OMIM:613443
Phelan-Mcdermid Syndrome
Impaired pain sensation, Seizure, Bruxism, Reduced social reciprocity, Aggressive behavior, Tongu... OMIM:606232
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Truncal ataxia, Motor s... OMIM:619121
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Seizure, Gait ataxia, Self-mutilation, Tremor, Aggressive behavior, Attention deficit hyperactivi... ORPHA:476126
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Seizure ORPHA:228384
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Hyperactivity, Hypo... OMIM:616364
Niemann-Pick Disease, Type C2
Seizure, Dysphagia, Ataxia, Dementia, Dystonia, Motor stereotypy OMIM:607625
Hijazi-Reis Syndrome
Motor stereotypy, Seizure OMIM:301094
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Emotional lability, Cognitive impairment, Torticollis, Ataxia, Tics, Motor stereotypy, Clonic sei... OMIM:619475
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Pain insensitivity, Fixated interests, Myoclonic seizure, Generalized no... OMIM:620330
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Bilateral toni... ORPHA:435638
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure ORPHA:1727
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Seizure, Low frustration tolerance, Aggressive behavior, Ataxia, Motor ... ORPHA:457279
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Seizure, Focal-onset seizure, Dysphagia, Motor stereotypy, Status epilepticus OMIM:617802
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity, Seizure OMIM:617751
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Seizure, Epileptic spasm, Infantile spasms, Focal-onset seiz... ORPHA:805
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Febrile seizure (within the ... OMIM:620073
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Frequent temper tantrums, Attention deficit hyperactivity disorder, Motor ... OMIM:619103
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Myoclonic seizure, Dysphagia, Infantile spasms ORPHA:572013
Smith-Magenis Syndrome
Self-injurious behavior, Impaired pain sensation, Seizure, Attention deficit hyperactivity disord... ORPHA:819
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Seizure, Reduced social reciprocity, Skin-picking, Attent... ORPHA:177907
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Seizure, Tremor, Aggressive behavior, Attention deficit hyperactivity di... OMIM:620494
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:616351
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Limb... ORPHA:457351
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Seizure, Compulsive behaviors OMIM:613174
Coffin-Siris Syndrome 7
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity OMIM:618027
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:397612
Fg Syndrome Type 1
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior, Seizure ORPHA:93932
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Seizure ORPHA:529965
Developmental And Epileptic Encephalopathy 2
Seizure, Generalized-onset seizure, Infantile spasms, Myoclonus, Multifocal seizures, Motor stere... OMIM:300672
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Seizure ORPHA:500159
Wiedemann-Steiner Syndrome
Seizure, Short attention span, Low frustration tolerance, Aggressive behavior, Dysphagia, Hyperac... ORPHA:319182
Van Esch-O'Driscoll Syndrome
Seizure, Attention deficit hyperactivity disorder, Excessive shyness, Motor stereotypy, Impulsivity OMIM:301030
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Dysphag... ORPHA:496641
Pilarowski-Bjornsson Syndrome
Motor stereotypy, Seizure OMIM:617682
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure ORPHA:1001
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Irritability, Focal motor... ORPHA:1675
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Seizure, Dysmetria, Reduced social reciprocity, Aggressive behavior, Pol... ORPHA:96121
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Seizure, Frequent temper tantrums, Short attention span, A... OMIM:619575
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Seizure, Bruxism, Reduced social reciprocity, Irritability, Polyphagia, ... OMIM:615873
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Chorea, Self-mutilation, Repetitive compulsive behavior, Self-biting, Ataxia, Dystonia, Motor ste... ORPHA:522077
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Seizure, Ataxia ORPHA:2479
White-Sutton Syndrome
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:468678
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... ORPHA:488618
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Seizure ORPHA:261144
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Motor stereotypy, Seizure OMIM:610253
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Seizure, Self-mutilation, Attention deficit hyperactivity disorder, Moto... OMIM:619005
Congenital Disorder Of Glycosylation, Type Iia
Seizure, Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Motor stereotypy OMIM:212066
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc... ORPHA:353281
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Mental deterioration, Seizure, Oppositional defiant disorder, Short att... ORPHA:580
Kleefstra Syndrome
Self-injurious behavior, Seizure, Self-mutilation, Aggressive behavior, Motor stereotypy ORPHA:261494
Joubert Syndrome 6
Motor stereotypy, Ataxia OMIM:610688
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hand tremor, Seizure, Gait ataxia, Dysmetria, Aggressive behavior, Attention deficit hyperactivit... OMIM:614756
Mend Syndrome
Aggressive behavior, Seizure, Hyperactivity, Abnormal social behavior ORPHA:401973
Cystinosis
Polydipsia, Motor stereotypy ORPHA:213
Pitt-Hopkins Syndrome
Self-injurious behavior, Gait ataxia, Motor stereotypy, Seizure OMIM:610954
Bainbridge-Ropers Syndrome
Self-injurious behavior, Motor stereotypy, Recurrent hand flapping, Seizure OMIM:615485
Rauch-Steindl Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619695
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Seizure, Short attention span, Aggressive behavior, Multifocal seizures, Motor stereotypy OMIM:301066
Monosomy 22Q13.3
Impaired pain sensation, Seizure, Bruxism, Hair-pulling, Hyperactivity ORPHA:48652
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Myoclonic seizure, Frequent temper tantrums, Tonic seizure, Hyperactivit... OMIM:619512
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Seizure, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Truncal ataxia, Motor ste... OMIM:617330
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Focal myoclonic seizure, Seizure, Generalized-onset seizure, Opisthotonus, Motor stereotypy ORPHA:508533
Koolen-De Vries Syndrome Due To A Point Mutation
Seizure, Generalized-onset seizure, Inappropriate laughter, Focal-onset seizure, Overfriendliness... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Seizure, Generalized-onset seizure, Inappropriate laughter, Focal-onset seizure, Overfriendliness... ORPHA:363958
Kinsship Syndrome
Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-clonic seizure, Moto... OMIM:619297
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc... ORPHA:353277
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Simple febrile seizure ORPHA:464311
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Motor stereotypy, Seizure OMIM:301040
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... ORPHA:513456
Ogden Syndrome
Generalized-onset seizure, Irritability, Dysphagia, Torticollis, Bilateral tonic-clonic seizure, ... OMIM:300855
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Seizure, Attention deficit hyperactivity disorder, Compulsiv... ORPHA:534
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Hyperactivity, Seizure, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:464306
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:468631
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizures, Motor stereotypy,... OMIM:301044
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Arboleda-Tham Syndrome
Dystonia, Motor stereotypy, Dysphagia, Seizure OMIM:616268
Norrie Disease
Self-injurious behavior, Seizure, Irritability, Attention deficit hyperactivity disorder, Motor s... ORPHA:649
Williams Syndrome
Depression, Overfriendliness, Dysmetria, Tremor, Attention deficit hyperactivity disorder, Ataxia... ORPHA:904
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Tremor, Bilateral toni... OMIM:612474
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Hyperactivity, Seizure OMIM:309590
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Seizure, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated startle response, Motor... OMIM:619522
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy OMIM:618653
1P36 Deletion Syndrome
Self-injurious behavior, Seizure, Polyphagia, Dysphagia, Motor stereotypy ORPHA:1606
Primrose Syndrome
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:259050
Mowat-Wilson Syndrome
Impaired pain sensation, Seizure, Bruxism, Focal-onset seizure, Reduced social reciprocity, Dysph... ORPHA:2152
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy, Seizure OMIM:616682
Coffin-Siris Syndrome 12
Motor stereotypy, Seizure OMIM:619325
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Motor stereotypy, Seizure OMIM:309000
Wolf-Hirschhorn Syndrome
Motor stereotypy, Seizure OMIM:194190
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Impaired pain sensation, Seizure, Bruxism, Dysphagia, Atypical absence seizure, Motor stereotypy,... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Impaired pain sensation, Seizure, Bruxism, Dysphagia, Atypical absence seizure, Motor stereotypy,... 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 Arhgap32

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 Arhgap32.

No publications found that use IMPC mice or data for Arhgap32.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Arhgap32tm453763(L1L2_GT2_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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