Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
janus kinase and microtubule interacting protein 1
Synonyms:
Gababrbp,  C330021K24Rik,  5830437M04Rik,  Marlin-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Jakmip1 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 Jakmip1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity OMIM:618830
Autism, Susceptibility To, 8
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Impair... OMIM:607373
Autism
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Impair... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Reduced social reciprocit... OMIM:608636
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Gait ataxia, Aggressive behavior, Excessive shyness OMIM:618221
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Abnormal social behavior ORPHA:436151
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300425
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Frontotemporal de... ORPHA:275864
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity, Motor stereotypy OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Aggressive behavior OMIM:618103
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Childhood Disintegrative Disorder
Abnormal emotion, Mental deterioration, Progressive language deterioration, Reduced social recipr... ORPHA:168782
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Inappropriate laughter, Ataxia, Motor stereotypy, EEG abnormality, Bruxism, Aggressive be... OMIM:619150
Pick Disease Of Brain
Irritability, Emotional blunting, Frontotemporal dementia, Polyphagia, Inappropriate laughter, Di... OMIM:172700
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Emotional lability, Motor stereotypy, EEG abnormality, Aggressive behavior OMIM:617171
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, EEG abnormality, Reduced social reciprocity, Motor stereotypy OMIM:617820
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Retrocerebellar cyst, Ataxia, Reduced social reciprocity, Partial absence of cerebellar vermis, A... ORPHA:137831
N-Acetylaspartate Deficiency
Truncal ataxia, Self-mutilation, Motor stereotypy, Short attention span OMIM:614063
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, C... ORPHA:66624
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy OMIM:618709
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, EEG abnormality, Aggressive behavior OMIM:239500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy OMIM:617862
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Frontotemporal dementia, Memory impairment, Disinhibition, Motor stereoty... OMIM:600795
Autism, Susceptibility To, 3
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Impair... OMIM:608049
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:617270
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Foxg1 Syndrome
Stereotypical hand wringing, Cognitive impairment, Reduced social reciprocity, Motor stereotypy, ... ORPHA:561854
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Spinocerebellar Ataxia Type 29
Delayed early-childhood social milestone development, Cerebellar vermis atrophy, Dysdiadochokines... ORPHA:208513
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Ataxia, Reduced social reciprocity, Motor ster... OMIM:610042
Hsd10 Disease
Abnormal social behavior, Short attention span, Ataxia, Dysphagia, Choreoathetosis ORPHA:391417
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300495
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Low frustration toleran... ORPHA:168491
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Disinhibiti... ORPHA:1020
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior, Short a... ORPHA:444002
Developmental And Epileptic Encephalopathy 58
Hypsarrhythmia, Motor stereotypy OMIM:617830
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Motor stereotypy, Self-injurious behavior, EEG abnormality, Bruxism, Paroxysmal bu... OMIM:618718
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Depression, Dysdiadochokinesis, Cerebellar atrophy, Compulsive behaviors, Cognitive ... OMIM:615157
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Emotional lability, Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Cerebellar hypoplasia, Hypoplasia of the pons, Ataxia, Dysphagia, Motor stereotypy, ... OMIM:617695
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Cerebellar atrophy, Ataxia, Reduced social reciprocity, Dysphagia, Aggressive... OMIM:619738
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Chorea, Cerebellar atrophy, Compulsive behaviors, Stereotypical hand wringing, Gait ataxia, Motor... OMIM:618917
Atypical Rett Syndrome
Agitation, Restrictive behavior, Tongue thrusting, Impaired pain sensation, Stereotypical hand wr... ORPHA:3095
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Cerebellar atrophy, Interictal EEG abnormality, Cognitive impairm... ORPHA:79264
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Reduced social reciprocity, Aggressive behavior ORPHA:329249
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, Athetosis, Cerebellar atrophy, Recurrent hand flapping, EEG abnormality OMIM:618141
Baker-Gordon Syndrome
Ataxia, Motor stereotypy, Self-injurious behavior, EEG abnormality, Choreoathetosis OMIM:618218
Myoclonic-Astatic Epilepsy
Abnormal emotion, EEG with polyspike wave complexes, Hyperactivity, Interictal epileptiform activ... ORPHA:1942
Christianson Syndrome
Truncal ataxia, Cerebellar atrophy, Gait ataxia, Inappropriate laughter, Dysphagia, Motor stereot... ORPHA:85278
Intellectual Developmental Disorder, Autosomal Dominant 56
Pontocerebellar atrophy, Short attention span, Impulsivity, Ataxia, Reduced social reciprocity, L... OMIM:617854
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Short... ORPHA:449291
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Cerebellar atrophy, Motor stereotypy OMIM:619690
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tongue thrusting, Emotional lability, Recurrent hand flapping, Short attention span, Impulsivity,... OMIM:619580
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Punding, Attention deficit hyperactivity disorder, EEG with... ORPHA:64280
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Motor stereotypy, Aggressive behavior OMIM:609425
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Motor stereotypy, Excessive shyness ORPHA:280763
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Chorea, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, EEG with focal spikes, Increased theta frequency activity in EEG, Interictal epilepti... ORPHA:98784
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Intellectual Developmental Disorder, Autosomal Recessive 6
Reduced social reciprocity OMIM:611092
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormality of pain sensation, Recurrent hand flapping, Ataxia, Reduc... ORPHA:544254
Shukla-Vernon Syndrome
Cerebellar atrophy, Impulsivity, Motor stereotypy, Attention deficit hyperactivity disorder, Aggr... OMIM:301029
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:619470
Lopes-Maciel-Rodan Syndrome
Agitation, Cerebellar vermis atrophy, Cerebellar atrophy, Dysphagia, Motor stereotypy, Bruxism OMIM:617435
Developmental And Epileptic Encephalopathy 6B
Chorea, EEG with spike-wave complexes (>3.5 Hz), Ataxia, Motor stereotypy, Multifocal epileptifor... OMIM:619317
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnormal social behav... ORPHA:309271
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Depression, Cerebellar vermis hypoplasia, Short attention span, Dysphoria, Motor s... OMIM:620242
Galloway-Mowat Syndrome 6
Cerebellar vermis atrophy, Cerebellar atrophy, Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, C... ORPHA:370022
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced... ORPHA:3077
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Emotional lability, Confusion, Cognitive impairment, Ataxia, Delirium, Motor stereotypy ORPHA:927
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnormal social behav... ORPHA:309263
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts o... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Stereotypical hand wringing, Inappropriate laughter, Ataxia, Motor stereotypy OMIM:614104
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Motor stereotypy OMIM:617393
Young-Onset Parkinson Disease
Agitation, Depression, Short attention span, Impulsivity, Cognitive impairment, Restless legs, Fr... ORPHA:2828
Intellectual Developmental Disorder, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, Dilated fourth ... OMIM:617751
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Compulsive behaviors, Repetitive compulsive behavior, Motor stereotypy, Attention ... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Pain insensitivity, Motor stereotypy, Attention deficit hyperactivity... OMIM:618825
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Hyperactivity, Head-banging, Impaired pain sensation, Self hu... OMIM:182290
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Short attention span, Motor stereotypy, Attention deficit hyperactivity disorder, ... OMIM:618342
Rett Syndrome, Congenital Variant
Irritability, Tongue thrusting, Chorea, Athetosis, Reduced social reciprocity, Motor stereotypy, ... OMIM:613454
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:615541
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypsarrhythmia, Hypoplasia of the pons, Multifocal epileptiform discharges, Motor stereotypy ORPHA:411986
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Compulsive behaviors, Diminished ability to concentrate, Ataxia, Reduced socia... OMIM:615656
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Recurrent hand flapping, Motor stereotypy, Attention deficit hyperactivity... OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Recurrent hand flapping, Compulsive behaviors, Ataxia, Motor stereotypy, Cerebellar hypoplasia, A... OMIM:300986
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Ataxia, Motor stereotypy, Motor tics, Attention deficit hyperactivity disorder OMIM:619725
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Low frustration tolerance, Cerebellar vermis hypoplasia, Gait ataxia, Disorganizat... OMIM:300486
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior OMIM:620292
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Hyperactivity, Impulsivity, Cerebellar dysplasia, Reduced so... ORPHA:8
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed early-childhood social milestone development, Emotional lability, Cerebellar vermis hypop... ORPHA:300570
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Hypsarrhythmia, Recurrent hand flapping, Stereotypical hand wringing, Stereotypica... OMIM:300912
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, EEG abnormality, Reduced social reciprocity, Depression OMIM:618798
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Cerebellar atrophy, Abnormality of visual evoked potentials,... OMIM:256600
Xq28 (MECP2) duplication
Depression, Dysphagia, Motor stereotypy, Gait ataxia DECIPHER:45
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Dysphagia, La... ORPHA:2388
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Motor stereotypy, Lateral ventricle dilatation OMIM:613443
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, EEG with occipital epileptiform discharges, EEG with parietal epileptiform discha... OMIM:619428
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Ataxia, Motor stereotypy, Gait ataxia OMIM:619092
X-Linked Intellectual Disability, Van Esch Type
Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:163976
Ritscher-Schinzel Syndrome 4
Chorea, Dandy-Walker malformation, Athetosis, Impulsivity, Ataxia, Dysphagia, Motor stereotypy, A... OMIM:619435
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Blepharophimosis-Impaired Intellectual Development Syndrome
Low frustration tolerance, Chiari malformation, Hypoplasia of the pons, Motor stereotypy, Overfri... OMIM:619293
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Stereotypical hand wringing, Skin-picking, Motor stereotypy, Pain insensitivity, S... OMIM:600430
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Abnormal social behavior, Emotional lability, Gait ataxia, A... ORPHA:309256
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Reduced social reciprocity, Aggressive behavior OMIM:616083
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy, Aggressive b... ORPHA:313892
Proximal 16P11.2 Microdeletion Syndrome
Chiari type I malformation, Reduced social reciprocity, Motor stereotypy, Attention deficit hyper... ORPHA:261197
Developmental And Epileptic Encephalopathy 64
Chorea, Motor stereotypy, Cerebellar hypoplasia, Self-injurious behavior, Bruxism OMIM:618004
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Cerebellar dysplasia, Self-mutilation, Motor stereotypy ORPHA:457240
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Depression, Confusion, Delirium, Restlessness ORPHA:100924
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Head-banging, Cerebellar atrophy, Frequent temper tantrums, Motor ste... OMIM:619103
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Cri-Du-Chat Syndrome
Hyperactivity, Short attention span, Oppositional defiant disorder, Motor stereotypy, Overfriendl... OMIM:123450
Intellectual Developmental Disorder, Autosomal Dominant 1
Cerebellar vermis hypoplasia, Recurrent hand flapping, Polyphagia, Short attention span, Inapprop... OMIM:156200
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Pontocerebellar Hypoplasia, Type 8
Chorea, Gait ataxia, Reduced social reciprocity, Dysphagia, Cerebellar hypoplasia OMIM:614961
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Depression, Chorea, Hostility, Ataxia, Dysphagia, Repetitive compulsive behavior, Motor stereotyp... OMIM:300260
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Dilated fourth ventricle, T... OMIM:610688
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Memory impairment, Nonprogressive cerebellar ataxia, Ataxia, Cerebellar... ORPHA:314647
4Q21 Microdeletion Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Motor stereotypy, Cerebellar hypoplasia ORPHA:238750
Coffin-Siris Syndrome 6
Attention deficit hyperactivity disorder, Tics, Motor stereotypy OMIM:617808
Potocki-Lupski Syndrome
Hyperactivity, EEG abnormality, Motor stereotypy, Oral-pharyngeal dysphagia OMIM:610883
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia, Lateral ventricle dilatation ORPHA:208447
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Depression, Ataxia, Motor stereotypy ORPHA:10
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Motor stereotypy ORPHA:228384
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Interictal epileptiform activity, Cerebellar atrophy, Dysphagia, Motor stereotypy OMIM:617802
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Dysmetria, Aggressive... OMIM:619121
Rett Syndrome
Agitation, Stereotypical hand wringing, Progressive language deterioration, Motor stereotypy, EEG... ORPHA:778
Den Hoed-De Boer-Voisin Syndrome
Multifocal epileptiform discharges, Agitation, Hypsarrhythmia, Short attention span, Stereotypica... OMIM:619229
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Motor stereotypy, Overfriendliness, Gait ataxia OMIM:616579
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Cerebellar vermis hypoplasia, Motor stereotypy, Gait ataxia OMIM:617807
Wagro Syndrome
Agitation, Emotional lability, Low frustration tolerance, Compulsive behaviors, Polyphagia, Reduc... OMIM:612469
Dentici-Novelli Neurodevelopmental Syndrome
Hypsarrhythmia, Motor stereotypy OMIM:619877
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Niemann-Pick Disease Type C
Abnormal social behavior, Depression, Chorea, Low frustration tolerance, Cerebellar vermis atroph... ORPHA:646
Coffin-Siris Syndrome 7
Chiari type I malformation, Hyperactivity, Compulsive behaviors, Motor stereotypy, Severe temper ... OMIM:618027
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Compulsive behaviors, Dysphagia, Motor stereotypy, Pain insensitivity, Attention deficit hyperact... OMIM:617061
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Compulsive behaviors, Ataxia, Motor stereotypy, Aggressive behavior OMIM:618430
Radio-Tartaglia Syndrome
Impulsivity, Ataxia, Dysphagia, Motor stereotypy, Agenesis of corpus callosum, Attention deficit ... OMIM:619312
Lead Poisoning
Anorexia, Memory impairment, Depression, Cognitive impairment, Reduced social reciprocity, Attent... ORPHA:330015
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Irritability, Abnormal aggressive, impulsive or violent... ORPHA:96263
Developmental And Epileptic Encephalopathy 66
Cerebellar vermis hypoplasia, Motor stereotypy OMIM:618067
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Cerebellar vermis hypoplas... OMIM:620073
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cerebellar dysplasia, Cerebellar hypoplasia, Motor stereotypy ORPHA:500159
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Emotional lability, Compulsive behaviors, Reduced socia... OMIM:309520
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, EEG with generalized slow activity, Motor stereotypy ORPHA:397612
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Motor stereotypy, Self-biting, Aggressive behavior ORPHA:3306
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Irritability, Motor stereotypy, Aggressive behavior ORPHA:391307
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Inappropriate laughter, Motor stereotypy OMIM:615802
Cerebral Creatine Deficiency Syndrome 1
Attention deficit hyperactivity disorder, Reduced social reciprocity, Motor stereotypy, Aggressiv... OMIM:300352
Houge-Janssens Syndrome 3
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy OMIM:618354
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Lateral ventricle dilatation, Motor stereotypy, Self-injurious behavior, Aggressive ... OMIM:618914
Smith-Magenis Syndrome
Impaired pain sensation, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurio... ORPHA:819
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal cerebellum morphology, Compulsive behaviors, A... ORPHA:93932
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Skin-pick... ORPHA:177907
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Aplasia/Hypoplasia of the cerebellum, Dysphagia, Motor stereotypy ORPHA:572013
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Chiari type I malformation, Head-banging, Short attention span, Frequent temper tantrums, Motor s... OMIM:619575
Alazami Syndrome
Self-mutilation, Abnormal eating behavior, Motor stereotypy, Stereotypical hand wringing ORPHA:319671
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, Chorea, EEG with focal sharp waves, Ataxia, EEG with series of foc... ORPHA:522077
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Compulsive behaviors, Motor stereotypy OMIM:613174
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618205
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Irritability, Hyperactivity, Motor stereotypy, Pica OMIM:617796
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Reduced social reciprocity, Dysphagia, Partial agenesis of the corp... OMIM:619775
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy ORPHA:1727
White-Sutton Syndrome
Irritability, Hyperactivity, Tics, Abnormality of visual evoked potentials, Motor stereotypy, Ove... OMIM:616364
Nmda Receptor Encephalitis
Agitation, EEG with temporal sharp slow waves, Memory impairment, Depression, Chorea, Confusion, ... ORPHA:217253
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Hyperactivity, Hypsarrhythmia, Dysphagia, Motor stereotypy ORPHA:447997
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
Phelan-Mcdermid Syndrome
Tongue thrusting, Impaired pain sensation, Reduced social reciprocity, Motor stereotypy, Bruxism,... OMIM:606232
Alg11-Cdg
Ataxia, Reduced social reciprocity, EEG with burst suppression ORPHA:280071
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Low frustration tolerance, Ataxia, Motor stereotypy, Lateral ventricle ... ORPHA:457279
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Compulsive behaviors, Gait ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Se... ORPHA:476126
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy ORPHA:435638
White-Sutton Syndrome
Hyperactivity, Cerebellar atrophy, Compulsive behaviors, Hypoplasia of the pons, Motor stereotypy... ORPHA:468678
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Impulsivity, Cognitive impairment, Ataxia, EEG abnormality, Bruxism, Aggressive be... OMIM:619475
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy OMIM:616351
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Impulsivity, Excessive shyness, Motor stereotypy, Attention deficit hyperacti... OMIM:301030
Niemann-Pick Disease, Type C2
Ataxia, Dysphagia, Motor stereotypy, Dementia OMIM:607625
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Hypsarrhythmia, EEG with frontal sharp slow waves, Motor stereotypy, Self-injurious behavior, EEG... ORPHA:457351
Megalocornea-Intellectual Disability Syndrome
EEG abnormality, Ataxia, Motor stereotypy ORPHA:2479
Transketolase Deficiency
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... ORPHA:488618
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior, Multi... ORPHA:1675
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Motor stereotypy, Attention deficit hyperactivity disorder, EEG abnormal... OMIM:619005
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Emotional lability, Cerebellar vermis hypoplasia, Polyphagia, Fixated ... OMIM:620330
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious ... OMIM:620494
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Motor stereotypy ORPHA:261144
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Cerebellar hypoplasia, Elongated superior cerebellar peduncle, Hyperactivity, Abnormal dentate nu... OMIM:619512
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353281
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy ORPHA:1001
7Q11.23 Microduplication Syndrome
Hyperactivity, Polyphagia, Collectionism, Reduced social reciprocity, Motor stereotypy, Cerebella... ORPHA:96121
Congenital Disorder Of Glycosylation, Type Iia
Stereotypical hand wringing, Motor stereotypy, Cerebellar hypoplasia, Self-mutilation, Aggressive... OMIM:212066
Tuberous Sclerosis Complex
Abnormal social behavior, Hyperactivity, Depression, Impulsivity, Repetitive compulsive behavior,... ORPHA:805
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Mend Syndrome
Abnormal social behavior, Hyperactivity, Dandy-Walker malformation, Abnormal auditory evoked pote... ORPHA:401973
Koolen-De Vries Syndrome Due To A Point Mutation
Chiari type I malformation, Abnormal social behavior, Interictal epileptiform activity, EEG with ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Chiari type I malformation, Abnormal social behavior, Interictal epileptiform activity, EEG with ... ORPHA:363958
Monosomy 22Q13.3
Cerebellar cortical atrophy, Hair-pulling, Hyperactivity, Impaired pain sensation, Agenesis of co... ORPHA:48652
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Ataxia, Dysphagia, Motor stereotypy ORPHA:496641
Bainbridge-Ropers Syndrome
Inferior cerebellar vermis hypoplasia, Recurrent hand flapping, Motor stereotypy, Lateral ventric... OMIM:615485
Wiedemann-Steiner Syndrome
Hyperactivity, Low frustration tolerance, Short attention span, Dysphagia, Motor stereotypy, Psyc... ORPHA:319182
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, EEG with generalized slow activity, Motor stereotypy OMIM:300672
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Decreased nerve conduction velocity, Hyperactivity, Short attention spa... ORPHA:580
Cystinosis
Polydipsia, Motor stereotypy ORPHA:213
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, EEG with central focal spikes, EEG with occipital focal spikes, S... OMIM:301066
Helsmoortel-Van Der Aa Syndrome
Irritability, Hyperactivity, Polyphagia, Compulsive behaviors, Reduced social reciprocity, Dyspha... OMIM:615873
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar vermis hypoplasia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Ataxia, Dysphagia,... OMIM:617330
Kleefstra Syndrome
Agenesis of corpus callosum, Motor stereotypy, Self-injurious behavior, Self-mutilation, Aggressi... ORPHA:261494
Kleefstra Syndrome 1
Compulsive behaviors, Motor stereotypy, Aggressive behavior OMIM:610253
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
Rauch-Steindl Syndrome
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:619695
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Dysphagia, Motor stereotypy, Choreoathetosis, EEG with photoparoxysmal response OMIM:619777
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Abnormal fear-induced behavior, Chiari type I malformation... ORPHA:353284
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia, Reduced so... ORPHA:404448
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Abnormal fear-induced behavior, Chiari type I malformation... ORPHA:353277
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar hypoplasia, Cerebellar atrophy, Hypoplasia of the pons, Olivopontocerebellar hypoplasi... ORPHA:468631
Pitt-Hopkins Syndrome
Self-injurious behavior, Motor stereotypy, Gait ataxia OMIM:610954
Trichothiodystrophy
Diffuse cerebellar atrophy, Reduced social reciprocity, Partial agenesis of the corpus callosum, ... ORPHA:33364
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Impaired pain sensation, Depression, Emotional lability, Compulsive behaviors, Polyph... ORPHA:293987
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Gait ataxia, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, C... OMIM:614756
Kinsship Syndrome
Dandy-Walker malformation, Bruxism, Motor stereotypy OMIM:619297
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Stereotypical body rocking, Repetitive compulsive behavior, Motor stereotypy, Cerebe... ORPHA:513456
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:464311
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy ORPHA:508533
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Motor stereotypy OMIM:301040
Oculocerebrorenal Syndrome Of Lowe
Depression, Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Sel... ORPHA:534
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Williams Syndrome
Abnormal social behavior, Depression, Chiari malformation, Compulsive behaviors, Ataxia, Overfrie... ORPHA:904
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Cerebellar hypoplasia, Reduced social reciprocity, Gait ataxia ORPHA:457359
Norrie Disease
Irritability, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavior... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Agenesis of corpus callosum, Motor stereotypy ORPHA:508498
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Motor stereotypy ORPHA:464306
Chromosome 1P36 Deletion Syndrome, Distal
Hypsarrhythmia, Polyphagia, Oppositional defiant disorder, Reduced social reciprocity, Dysphagia,... OMIM:607872
1P36 Deletion Syndrome
Polyphagia, Dysphagia, Motor stereotypy, Agenesis of corpus callosum, Self-injurious behavior, EE... ORPHA:1606
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypsarrhythmia, EEG abnormality, Motor stereotypy OMIM:301044
Ogden Syndrome
Irritability, Dysphagia, Motor stereotypy OMIM:300855
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy OMIM:618653
Mowat-Wilson Syndrome
Enlarged cerebellum, EEG with spike-wave complexes, Impaired pain sensation, Cerebellar vermis hy... ORPHA:2152
Arboleda-Tham Syndrome
Dysphagia, Motor stereotypy OMIM:616268
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Enlarged cerebellum, Chiari type I malformation, Impaired pain sensation, Cerebellar vermis hypop... ORPHA:261537
Coffin-Siris Syndrome 12
Enlarged cerebellum, Chiari malformation, Motor stereotypy OMIM:619325
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Motor stereotypy OMIM:309590
Wolf-Hirschhorn Syndrome
Agenesis of corpus callosum, EEG abnormality, Motor stereotypy OMIM:194190
Primrose Syndrome
Tics, Ataxia, Motor stereotypy, Restlessness, Attention deficit hyperactivity disorder, Self-inju... OMIM:259050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Enlarged cerebellum, Chiari type I malformation, Impaired pain sensation, Cerebellar vermis hypop... ORPHA:261552
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Motor stereotypy OMIM:612474
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Dysphagia, Motor stereotypy OMIM:619522
17Q11 Microdeletion Syndrome
Short attention span, Reduced social reciprocity, Memory impairment ORPHA:97685
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Aggressive behavior OMIM:309000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy OMIM:616682

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 Jakmip1

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 Jakmip1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse. Neuron (November 2015) Jakmip1tm1(KOMP)Vlcg PMC4829343

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Jakmip1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Jakmip1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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