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Gene: Jakmip1 MGI:1923321

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

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 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
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... 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 Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Abnormal social behavior ORPHA:436151
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300425
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Reduced social reciprocity OMIM:606053
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, EEG with continuous slow activity, Mental deterioration, Memory impairment,... ORPHA:275864
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Chorea, Aggressive behavior, EEG abnormality, Ataxia, Motor ster... OMIM:619150
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion... OMIM:172700
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Aggressive behavior, EEG abnormality, Motor stereotypy, Agitation OMIM:617171
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, EEG abnormality, Reduced social reciprocity OMIM:617820
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Reduced social reciprocity, Cerebellar hypop... ORPHA:137831
N-Acetylaspartate Deficiency
Short attention span, Truncal ataxia, Motor stereotypy, Self-mutilation OMIM:614063
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... ORPHA:66624
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Hyperprolinemia, Type I
Aggressive behavior, EEG abnormality, Hyperactivity, Ataxia, Motor stereotypy 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
Memory impairment, Inappropriate behavior, Disinhibition, Aggressive behavior, Frontotemporal dem... OMIM:600795
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608049
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Foxg1 Syndrome
Bruxism, Reduced social reciprocity, Stereotypical hand wringing, Agenesis of corpus callosum, Mo... ORPHA:561854
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Delayed early-childhood so... ORPHA:208513
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Hsd10 Disease
Short attention span, Ataxia, Dysphagia, Abnormal social behavior, Choreoathetosis ORPHA:391417
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300495
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Cerebellar atrophy, Dementia, EEG with generalized slow activity, Abnormal ... ORPHA:168491
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
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Disinhibition, Ataxia, Dementia, Semantic dementia, Abnormal social... ORPHA:1020
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Short attention span, Abnormal so... ORPHA:444002
Developmental And Epileptic Encephalopathy 58
Hypsarrhythmia, Motor stereotypy OMIM:617830
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, EEG abnormality, Paroxysmal bu... OMIM:618718
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Olivopontocerebellar atrophy... OMIM:615157
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Emotional lability, Disinhibition, Frontotemporal dementia, Dysphagia, Motor stereotypy OMIM:612069
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Hypoplasia of the pons, Limb ataxia, Agenesis of corpus callosum, Cerebe... OMIM:617695
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Cerebellar atrophy, Chorea, Reduced social reciprocity, Aggressive behavior, Ataxia, ... OMIM:619738
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Cerebellar atrophy, Chorea, Gait ataxia, Stereotypical hand wringing, Co... OMIM:618917
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Atypical Rett Syndrome
Restrictive behavior, Impaired pain sensation, Bruxism, Inappropriate laughter, Gait ataxia, Redu... ORPHA:3095
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Cerebellar atrophy, Interictal EEG abnormality, Emotional lability, Dysphagia, Cognit... ORPHA:79264
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Recurrent hand flapping, Hypsarrhythmia, EEG abnormality, Athetosis OMIM:618141
Baker-Gordon Syndrome
Self-injurious behavior, EEG abnormality, Ataxia, Motor stereotypy, Choreoathetosis OMIM:618218
Christianson Syndrome
Cerebellar atrophy, Inappropriate laughter, Gait ataxia, Aplasia/Hypoplasia of the cerebellum, Dy... ORPHA:85278
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Abnormal emotion, EEG with polys... ORPHA:1942
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Short attention span, Pontocerebellar atrophy, Reduced social recip... OMIM:617854
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... ORPHA:449291
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy, Cerebellar atrophy OMIM:619690
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Recurrent hand flapping, Gait ataxia, Short attention span, Emotional labilit... OMIM:619580
Childhood Absence Epilepsy
Depression, EEG with spike-wave complexes (2.5-3.5 Hz), Punding, Attention deficit hyperactivity ... ORPHA:64280
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Excessive shyness, Cerebellar atrophy ORPHA:280763
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment ORPHA:309246
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Increased theta frequency activity in EEG, Attention deficit hyperactivity disorder, ... 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
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec... ORPHA:544254
Shukla-Vernon Syndrome
Cerebellar atrophy, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereoty... OMIM:301029
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Bruxism, Dysphagia, Motor stereotypy, Agitation OMIM:617435
Developmental And Epileptic Encephalopathy 6B
Chorea, Ataxia, Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Moto... OMIM:619317
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Depression, Progressive psychomotor deterioration, Decreased nerve conduction ... ORPHA:309271
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Cerebellar vermis hypoplasia, Depression, Short attention span, Aggressive behavior, Attention de... OMIM:620242
Galloway-Mowat Syndrome 6
Cerebellar vermis atrophy, Paroxysmal bursts of laughter, Motor stereotypy, Cerebellar atrophy OMIM:618347
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... ORPHA:370022
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Focal EEG discharges with secondary generalization, Irritability,... ORPHA:3077
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Confusion, Emotional lability, Cognitive impairment, Ataxia, Delirium, Motor stereotypy, Agitation ORPHA:927
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Decreased nerve conduction velocity, Short attention span,... ORPHA:309263
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Hyperactivity, Ataxia, Motor stereotypy OMIM:614104
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Irritability OMIM:617393
Young-Onset Parkinson Disease
Depression, Frontal lobe dementia, Short attention span, Restless legs, Agitation, Reduced social... ORPHA:2828
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... OMIM:617751
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv... OMIM:618825
Autism Spectrum Disorder Due To Auts2 Deficiency
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi... ORPHA:352490
Smith-Magenis Syndrome
Pain insensitivity, Abnormal nerve conduction velocity, Head-banging, Impaired pain sensation, On... OMIM:182290
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, Hyp... OMIM:618342
Rett Syndrome, Congenital Variant
Bruxism, Chorea, Reduced social reciprocity, Irritability, Tongue thrusting, EEG abnormality, Ath... OMIM:613454
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
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
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Multifocal epileptiform discharges, Hypsarrhythmia, Motor stereotypy, Hypoplasia of the pons ORPHA:411986
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Reduced social reciprocity, Diminished ability to concentrate, Attention defic... OMIM:615656
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Motor s... OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Recurrent hand flapping, Cerebellar hypoplasia, Aggressive behavior, Att... OMIM:300986
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Attention deficit hyperactivity disorder, Motor tics, Ataxia, Motor stereotypy OMIM:619725
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cerebellar vermis hypoplasia, Retrocerebellar cyst, Gait ataxia, Low frustration tolerance, Self-... OMIM:300486
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620292
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Reduced social reciprocity, Attention ... ORPHA:8
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Short attention span, Emotional labil... ORPHA:300570
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced social reciprocity... OMIM:300912
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, Depression, EEG abnormality, Reduced social reciprocity OMIM:618798
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Reduced social reciprocity, Ataxia, Abno... OMIM:256600
Xq28 (MECP2) duplication
Gait ataxia, Motor stereotypy, Depression, Dysphagia DECIPHER:45
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Motor stereotypy, Lateral ventricle dilatation OMIM:613443
Choreoacanthocytosis
Mental deterioration, Lateral ventricle dilatation, Emotional lability, Hair-pulling, Dysphagia, ... ORPHA:2388
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, EEG with... OMIM:619428
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Gait ataxia, Motor stereotypy, Impaired tactile sensation OMIM:619092
Ritscher-Schinzel Syndrome 4
Chorea, Agenesis of corpus callosum, Cerebellar hypoplasia, Aggressive behavior, Dysphagia, Dandy... OMIM:619435
X-Linked Intellectual Disability, Van Esch Type
Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:163976
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Blepharophimosis-Impaired Intellectual Development Syndrome
Chiari malformation, Hypoplasia of the pons, Low frustration tolerance, Overfriendliness, Attenti... OMIM:619293
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Pain insensitivity, Stereotypical hand wringing, Skin-picking, Aggressiv... OMIM:600430
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Gait ataxia, Emotional lability, Progressive gait ataxia, Ab... ORPHA:309256
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... ORPHA:313892
Proximal 16P11.2 Microdeletion Syndrome
Reduced social reciprocity, Chiari type I malformation, Attention deficit hyperactivity disorder,... ORPHA:261197
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Aggressive behavior, Reduced social reciprocity OMIM:616083
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Chorea, Cerebellar hypoplasia, Motor stereotypy OMIM:618004
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Depression, Motor stereotypy, Self-mutilation ORPHA:457240
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Cerebellar atrophy, Frequent temper tantrums, Dysplastic corpus callosum, Attention... OMIM:619103
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Cri-Du-Chat Syndrome
Oppositional defiant disorder, Short attention span, Self-mutilation, Overfriendliness, Aggressiv... OMIM:123450
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Cerebellar vermis hypoplasia, Bruxism, Inappropriate laughter, Recurrent... OMIM:156200
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Depression, Hostility, Bruxism, Chorea, Repetitive compulsive behavior, Dysph... OMIM:300260
Pontocerebellar Hypoplasia, Type 8
Chorea, Gait ataxia, Reduced social reciprocity, Cerebellar hypoplasia, Dysphagia OMIM:614961
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, T... OMIM:610688
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:238750
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Dysmetria, Cerebellar hypoplasia, Aggressive behavior, Ataxia, Nonprogressive ... ORPHA:314647
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617808
Potocki-Lupski Syndrome
EEG abnormality, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Lateral ventricle dilatation, Oral-pharyngeal dysphagia ORPHA:208447
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Ataxia 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, Motor stereotypy, Dysphagia, Cerebellar atrophy OMIM:617802
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Truncal ataxia, Motor s... OMIM:619121
Rett Syndrome
Bruxism, Stereotypical hand wringing, EEG abnormality, Progressive language deterioration, Motor ... ORPHA:778
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Short attention span, Stereotypical hand wringing, Hypsarrhythmia, ... OMIM:619229
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Motor stereotypy, Impaired pain sensation, Overfriendliness OMIM:616579
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Gait ataxia, Motor stereotypy, Cerebellar vermis hypoplasia OMIM:617807
Dentici-Novelli Neurodevelopmental Syndrome
Hypsarrhythmia, Motor stereotypy OMIM:619877
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Wagro Syndrome
Emotional lability, Low frustration tolerance, Reduced social reciprocity, Polyphagia, Aggressive... OMIM:612469
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Dementia, Cerebellar verm... ORPHA:646
Coffin-Siris Syndrome 7
Chiari type I malformation, Hyperactivity, Compulsive behaviors, Severe temper tantrums, Motor st... OMIM:618027
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity... OMIM:617061
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy OMIM:618430
Radio-Tartaglia Syndrome
Agenesis of corpus callosum, Aggressive behavior, Attention deficit hyperactivity disorder, Dysph... OMIM:619312
Lead Poisoning
Memory impairment, Depression, Somatic sensory dysfunction, Reduced social reciprocity, Attention... ORPHA:330015
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent behavior, Abn... ORPHA:96263
Developmental And Epileptic Encephalopathy 66
Cerebellar vermis hypoplasia, Motor stereotypy OMIM:618067
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Attention deficit hyperactivity disorder, Motor stereotypy, Agenesi... OMIM:620073
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cerebellar hypoplasia, Cerebellar dysplasia, Motor stereotypy ORPHA:500159
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Low frustration tolerance, Agenesis of corpus callosum, Reduced social recipr... OMIM:309520
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, EEG with generalized slow activity ORPHA:397612
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability ORPHA:391307
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Self-biting ORPHA:3306
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Inappropriate laughter, Motor stereotypy, Agenesis of corpus callosum OMIM:615802
Cerebral Creatine Deficiency Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Reduced social r... OMIM:300352
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618354
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Lateral ventricle dilatation, Aggressive behavior, Motor stereotypy, Imp... OMIM:618914
Smith-Magenis Syndrome
Self-injurious behavior, Impaired pain sensation, Attention deficit hyperactivity disorder, EEG a... ORPHA:819
Fg Syndrome Type 1
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal cerebellum morphology, A... ORPHA:93932
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, Reduced social reciprocity,... ORPHA:177907
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Aplasia/Hypoplasia of the cerebellum, Dysphagia ORPHA:572013
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Lateral ventricle dilatation, Frequent temper tantrums, Sh... OMIM:619575
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Alazami Syndrome
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing ORPHA:319671
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with focal sharp waves, Chorea, EEG with spike-wave complexes, Self-mutilation, Repetitive co... ORPHA:522077
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Motor stereotypy, Compulsive behaviors 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, Pica, Motor stereotypy OMIM:617796
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1727
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Hyperactivity, Tics... OMIM:616364
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dysphagia, Reduced social ... OMIM:619775
Nmda Receptor Encephalitis
Mania, Memory impairment, Depression, Confusion, Chorea, Short attention span, EEG with temporal ... ORPHA:217253
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hypsarrhythmia, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
Phelan-Mcdermid Syndrome
Impaired pain sensation, Bruxism, Reduced social reciprocity, Aggressive behavior, Tongue thrusti... OMIM:606232
Alg11-Cdg
EEG with burst suppression, Reduced social reciprocity, Ataxia ORPHA:280071
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Lateral ventricle dilatation, Low frustration tolerance, Aggressive beh... ORPHA:457279
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Comp... ORPHA:476126
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia ORPHA:435638
White-Sutton Syndrome
Self-injurious behavior, Cerebellar atrophy, Hypoplasia of the pons, Aggressive behavior, Hyperac... ORPHA:468678
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Emotional lability, Hypsarrhythmia, Cognitive impairment, Ataxia, Tics, Motor stereotypy, Depress... OMIM:619475
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy OMIM:616351
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Attention deficit hyperactivity disorder, Excessive shyness, Motor stereotypy... OMIM:301030
Niemann-Pick Disease, Type C2
Dementia, Motor stereotypy, Dysphagia, Ataxia OMIM:607625
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, EEG with frontal sharp slow waves, Hypsarrhythmia, EEG abnormality, Moto... ORPHA:457351
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, EEG abnormality, Ataxia ORPHA:2479
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... ORPHA:488618
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Self-mutilation, Attention deficit hyperactivity disorder, EEG abnormali... OMIM:619005
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, EEG abnormality, Multifocal epileptiform discharges, Abnormal aggressive, impulsive... ORPHA:1675
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Pain insensitivity, Cerebellar vermis hypoplasia, Fixated interests, Emo... OMIM:620330
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:620494
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Agenesis of corpus callosum ORPHA:261144
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Hypoplasia of the pons, Frequent temper tantrums, Agenesis of corpus cal... OMIM:619512
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Chiari malformation, Abnormal fear-induced behavior, Emotional lability,... ORPHA:353281
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1001
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Dysmetria, Reduced social reciprocity, Cerebellar hypoplasia, Aggressive... ORPHA:96121
Congenital Disorder Of Glycosylation, Type Iia
Self-mutilation, Stereotypical hand wringing, Cerebellar hypoplasia, Aggressive behavior, Motor s... OMIM:212066
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Koolen-De Vries Syndrome Due To A Point Mutation
Inappropriate laughter, Overfriendliness, Agenesis of corpus callosum, Chiari type I malformation... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Inappropriate laughter, Overfriendliness, Agenesis of corpus callosum, Chiari type I malformation... ORPHA:363958
Mend Syndrome
Abnormal auditory evoked potentials, Aggressive behavior, Hyperactivity, Abnormal social behavior... ORPHA:401973
Monosomy 22Q13.3
Impaired pain sensation, Bruxism, Agenesis of corpus callosum, Hair-pulling, Hyperactivity, Cereb... ORPHA:48652
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Motor stereotypy, Dysphagia, Ataxia ORPHA:496641
Bainbridge-Ropers Syndrome
Self-injurious behavior, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Rec... OMIM:615485
Wiedemann-Steiner Syndrome
Short attention span, Low frustration tolerance, Aggressive behavior, Dysphagia, Hyperactivity, P... ORPHA:319182
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, Motor stereotypy, EEG with generalized slow activity OMIM:300672
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Mental deterioration, Decreased nerve conduction velocity, Oppositional... ORPHA:580
Cystinosis
Polydipsia, Motor stereotypy ORPHA:213
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, EEG with central focal spikes, Aggressive behavior, Motor stereotypy, EEG w... OMIM:301066
Helsmoortel-Van Der Aa Syndrome
Lateral ventricle dilatation, Bruxism, Reduced social reciprocity, Irritability, Polyphagia, Atte... OMIM:615873
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxia, Dysmetria, Dys... OMIM:617330
Kleefstra Syndrome
Self-injurious behavior, Self-mutilation, Agenesis of corpus callosum, Aggressive behavior, Motor... ORPHA:261494
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Motor stereotypy OMIM:610253
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
Rauch-Steindl Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619695
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, EEG with photoparoxysmal response, Dysphagia, Motor stereotypy, Choreoathetosis OMIM:619777
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Chiari malformation, Abnormal fear-induced behavior, Abnormal lateral ve... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Chiari malformation, Abnormal fear-induced behavior, Abnormal lateral ve... ORPHA:353277
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Reduced social reciprocity, Polyphagia, Atte... ORPHA:404448
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Cerebellar atrophy, Hypoplasia of the pons, Agenesis of corpus callosum,... ORPHA:468631
Pitt-Hopkins Syndrome
Self-injurious behavior, Gait ataxia, Motor stereotypy OMIM:610954
Trichothiodystrophy
Diffuse cerebellar atrophy, Partial agenesis of the corpus callosum, Gait ataxia, Reduced social ... 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
Self-injurious behavior, Depression, Polydipsia, Impaired pain sensation, Emotional lability, Red... ORPHA:293987
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Gait ataxia, Dysmetria, Cerebellar hypoplasia, Aggressive behavior, Attention deficit hyperactivi... OMIM:614756
Kinsship Syndrome
Bruxism, Motor stereotypy, Dandy-Walker malformation OMIM:619297
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Stereotypical body rocking, Gait ataxia, Cerebellar hypoplasia, Repetitive compulsive behavior, M... 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
Self-injurious behavior, Depression, Attention deficit hyperactivity disorder, EEG abnormality, C... ORPHA:534
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Williams Syndrome
Depression, Chiari malformation, Overfriendliness, Dysmetria, Attention deficit hyperactivity dis... ORPHA:904
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Cerebellar hypoplasia, Gait ataxia, Reduced social reciprocity ORPHA:457359
Norrie Disease
Self-injurious behavior, Irritability, Attention deficit hyperactivity disorder, Aplasia/Hypoplas... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy, Agenesis of corpus callosum ORPHA:508498
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Hyperactivity ORPHA:464306
Chromosome 1P36 Deletion Syndrome, Distal
Lateral ventricle dilatation, Oppositional defiant disorder, Self-mutilation, Agenesis of corpus ... OMIM:607872
1P36 Deletion Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Polyphagia, Dysphagia, EEG abnormality, Mot... ORPHA:1606
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypsarrhythmia, Motor stereotypy, EEG abnormality OMIM:301044
Ogden Syndrome
Motor stereotypy, Dysphagia, Irritability OMIM:300855
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy OMIM:618653
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Impaired pain sensation, EEG with generalized slow activity, Bruxis... ORPHA:2152
Arboleda-Tham Syndrome
Motor stereotypy, Dysphagia OMIM:616268
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Impaired pain sensation, Lateral ventricle dilatation, Bruxism, Enl... ORPHA:261537
Coffin-Siris Syndrome 12
Chiari malformation, Enlarged cerebellum, Motor stereotypy OMIM:619325
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Hyperactivity OMIM:309590
Wolf-Hirschhorn Syndrome
Motor stereotypy, EEG abnormality, Agenesis of corpus callosum OMIM:194190
Primrose Syndrome
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Ataxia, T... OMIM:259050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Impaired pain sensation, Lateral ventricle dilatation, Bruxism, Enl... 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, Motor stereotypy, Dysphagia OMIM:619522
17Q11 Microdeletion Syndrome
Memory impairment, Short attention span, Reduced social reciprocity ORPHA:97685
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Motor stereotypy 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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