banner
Genes Phenotypes Help, News, Blog

Gene: Jakmip1 MGI:1923321

Log in to follow
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
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Impaired soci... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Abnormal social behavior ORPHA:436151
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300425
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, EEG abnormality, Inappropriate laughter, Bruxism, Abnormal r... OMIM:619150
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, EEG abnormality, Agitation, Emotional lability, Abnormal repetitive mannerisms OMIM:617171
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... OMIM:172700
Hereditary Geniospasm
EEG abnormality, Abnormal social behavior ORPHA:53372
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
N-Acetylaspartate Deficiency
Short attention span, Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia OMIM:614063
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions, EEG abnorm... OMIM:617820
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms OMIM:239500
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebellar vermis, Retroc... ORPHA:137831
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:617862
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... OMIM:608049
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait... ORPHA:208513
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hsd10 Disease
Short attention span, Ataxia, Choreoathetosis, Dysphagia, Abnormal social behavior ORPHA:391417
Foxg1 Syndrome
Abnormal repetitive mannerisms, Choreoathetosis, Impaired social interactions, Bruxism, Cognitive... ORPHA:561854
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300495
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Progressive language deterioration, ... OMIM:610042
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... ORPHA:1020
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls... ORPHA:444002
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:617830
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Impaired social interactions, Stereotypical hand wringing ORPHA:397933
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, EEG abnormality, Bruxism, Abnormal repetitive mannerisms,... OMIM:618718
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, EE... ORPHA:168491
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... OMIM:612069
Pontocerebellar Hypoplasia, Type 11
Ataxia, Hypoplasia of the pons, Limb ataxia, Self-injurious behavior, Agenesis of corpus callosum... OMIM:617695
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Ataxia, Aggressive behavior, Dysmetria, Depression, Gait ataxia, Limb ataxia,... OMIM:615157
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Depression, Dementia, Progressive language deteri... ORPHA:79264
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal ... OMIM:618917
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:616341
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Hypsarrhythmia, Athetosis, EEG abnormality, Recurrent hand flapping OMIM:618141
Baker-Gordon Syndrome
Ataxia, Choreoathetosis, Self-injurious behavior, EEG abnormality, Abnormal repetitive mannerisms OMIM:618218
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Christianson Syndrome
Cerebellar atrophy, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Aplasia/Hypop... ORPHA:85278
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh... ORPHA:449291
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Childhood Absence Epilepsy
Depression, Punding, Attention deficit hyperactivity disorder, Abnormal social behavior, EEG with... ORPHA:64280
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Short attention span, Ataxia, Impulsivity, Aggressive behavior, Tongue thrust... OMIM:619580
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Aggressive behavior, Chorea, Depression, Impaired social interactions... OMIM:619738
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Abnormal repetitive mannerisms, Shyness ORPHA:280763
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment ORPHA:309246
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, Depression, EEG with focal spikes, Interictal epilepti... ORPHA:98784
Atypical Rett Syndrome
Restrictive behavior, Impaired pain sensation, Tongue thrusting, Gait ataxia, EEG abnormality, Ag... ORPHA:3095
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Ataxia, Impulsivity, Pontocerebellar atrophy, Lateral ventric... OMIM:617854
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Shukla-Vernon Syndrome
Cerebellar atrophy, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, A... OMIM:301029
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, EEG with ir... ORPHA:1942
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms, Cerebellar ver... OMIM:617435
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cerebellar ver... OMIM:618347
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Dysphoria... OMIM:620242
Developmental And Epileptic Encephalopathy 6B
Ataxia, Chorea, Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Chor... OMIM:619317
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, C... ORPHA:370022
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... ORPHA:3077
Metachromatic Leukodystrophy, Adult Form
Short attention span, Decreased nerve conduction velocity, Chorea, Progressive psychomotor deteri... ORPHA:309271
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive manne... ORPHA:927
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... OMIM:607485
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Abnormal repetitive mannerisms OMIM:617393
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Inappropriate laughter, Abnormal repetitive mannerisms, Stereotypical hand... OMIM:614104
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Impaired social interactions, Aggressive behavior ORPHA:329249
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... ORPHA:309263
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Lateral ventricle dilatati... OMIM:617751
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:618825
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:618342
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, EEG abnormality, Onychotillom... OMIM:182290
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Irritability, Athetosis, EEG abnormality, Impaired social interactions,... OMIM:613454
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... OMIM:617600
Young-Onset Parkinson Disease
Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag... ORPHA:2828
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Abnormal repetitive mannerisms, Multifocal epileptiform discharges, Hypsa... ORPHA:411986
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Impaired soc... OMIM:615656
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G... OMIM:300486
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Chorea, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Cerebellar hypoplasia, Attention deficit hy... OMIM:300986
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Cerebellar vermis hypoplasia, Partial agenesis of the corpu... ORPHA:300570
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Hypsarrhythmia, Stereotypical b... OMIM:300912
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Abnormal repetitive mannerisms OMIM:613443
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Continuous spike and waves dur... OMIM:619428
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Abnormal repetitive mannerisms, Ataxia, Gait ataxia OMIM:619092
Xq28 (MECP2) duplication
Gait ataxia, Depression, Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
Choreoacanthocytosis
Chorea, Compulsive behaviors, Decreased amplitude of sensory action potentials, Impaired vibrator... ORPHA:2388
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Agenesis of corpus callosum, Athetosis, Cerebel... OMIM:619435
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypoplasia of the pons, Chiari malformation, Low frustration tolerance, Attention deficit hyperac... OMIM:619293
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Ab... OMIM:600430
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Dysmetria, Positive Romberg sign, Cerebellar hypoplasia, Nonprogress... ORPHA:314647
47,Xyy Syndrome
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Impaired social interaction... ORPHA:8
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Head-ban... OMIM:619103
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Developmental And Epileptic Encephalopathy 64
Chorea, Self-injurious behavior, Cerebellar hypoplasia, Bruxism, Abnormal repetitive mannerisms OMIM:618004
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Abnormal repetitive mannerisms, Self-mutilation, Cerebellar dysplasia ORPHA:457240
Proximal 16P11.2 Microdeletion Syndrome
Chiari type I malformation, Choreoathetosis, Impaired social interactions, Attention deficit hype... ORPHA:261197
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Repetitive compulsive behavior, Chorea, Bruxism, Depression, Hostilit... OMIM:300260
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Gait ataxia, Progressive gait ataxia, Emotional lability, Ab... ORPHA:309256
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mu... OMIM:123450
4Q21 Microdeletion Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Cerebellar ... ORPHA:238750
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Elongated superior cerebellar ped... OMIM:610688
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary... ORPHA:208447
Potocki-Lupski Syndrome
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia OMIM:610883
48,Xxyy Syndrome
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression ORPHA:10
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Abnormal repetitive mannerisms ORPHA:228384
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Abnormal repetitive mannerisms, Interictal epileptiform activity, Dysphagia OMIM:617802
Den Hoed-De Boer-Voisin Syndrome
Short attention span, EEG with focal spike waves, Ataxia, Multifocal epileptiform discharges, Hyp... OMIM:619229
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Niemann-Pick Disease Type C
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Chorea, Mental deterioration, ... ORPHA:646
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Dysmetria, Attention deficit hyperactivity disorder, Truncal ataxia, Abnorma... OMIM:619121
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Gait ataxia OMIM:617807
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... ORPHA:96263
Dentici-Novelli Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:619877
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms OMIM:618430
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Agenesis of corpus callosum, Attention deficit hyperact... OMIM:619312
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia... OMIM:617061
Coffin-Siris Syndrome 7
Hyperactivity, Severe temper tantrums, Chiari type I malformation, Compulsive behaviors, Abnormal... OMIM:618027
Developmental And Epileptic Encephalopathy 66
Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms OMIM:618067
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Attent... OMIM:620073
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, EEG with generalized slow activity ORPHA:397612
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Fg Syndrome Type 1
Abnormal cerebellum morphology, Attention deficit hyperactivity disorder, Abnormal social behavio... ORPHA:93932
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms, Cerebellar hypoplasia, Cerebellar dysplasia ORPHA:500159
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting ORPHA:3306
Prader-Willi Syndrome Due To Translocation
Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Skin-picking, Compulsive be... ORPHA:177907
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Inappr... OMIM:615802
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... OMIM:618914
Cerebral Creatine Deficiency Syndrome 1
Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis... OMIM:300352
Smith-Magenis Syndrome
Impaired pain sensation, EEG abnormality, Self-injurious behavior, Attention deficit hyperactivit... ORPHA:819
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... ORPHA:522077
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Head-banging, Chiari type I malformation, Self-injurious behavior, Lateral ... OMIM:619575
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Compulsive ... OMIM:613174
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitive mannerisms OMIM:617796
Snijders Blok-Campeau Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618205
Nmda Receptor Encephalitis
Short attention span, Confusion, Hypersexuality, Chorea, EEG with temporal sharp slow waves, Depr... ORPHA:217253
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Hypsarrhythmia, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Phelan-Mcdermid Syndrome
Aggressive behavior, Impaired pain sensation, Tongue thrusting, Impaired social interactions, Bru... OMIM:606232
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Lateral ventricle dilatation, Low frustration tolerance, Abnormal te... ORPHA:457279
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors,... ORPHA:476126
3P25.3 Microdeletion Syndrome
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:435638
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Irritability, Tics, Abnormal repetit... OMIM:616364
White-Sutton Syndrome
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Hypoplasia of the pons, Self-injurious be... ORPHA:468678
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ... OMIM:619475
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism OMIM:616351
Rett Syndrome
EEG abnormality, Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:778
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Impulsivity, Shyness, Attention deficit hyperactivity disorder, Abnormal repe... OMIM:301030
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Niemann-Pick Disease, Type C2
Dementia, Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Dihydropyrimidine Dehydrogenase Deficiency
Multifocal epileptiform discharges, EEG abnormality, Irritability, Abnormal social behavior, Abno... ORPHA:1675
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Hypsarrhythmia, EEG with frontal sharp slow waves, EEG abnormality, Self-injurious behavior, Abno... ORPHA:457351
Megalocornea-Intellectual Disability Syndrome
EEG abnormality, Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Cerebellar vermis hypoplasia, Aggressive behavior, Hair-pulling,... OMIM:620330
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder, Abnormal repe... OMIM:619005
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Abnormal repetitive mannerisms ORPHA:261144
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Koolen-De Vries Syndrome Due To A Point Mutation
EEG with focal epileptiform discharges, Chiari type I malformation, EEG abnormality, Inappropriat... ORPHA:363965
17Q21.31 Microdeletion Syndrome
EEG with focal epileptiform discharges, Chiari type I malformation, EEG abnormality, Inappropriat... ORPHA:363958
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Abnormal social behavior... ORPHA:401973
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Cerebellar hypoplasia, Abnormal repetitive mannerisms, Self-mutilation, Ster... OMIM:212066
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Dysmetria, Self-injurious behavior... ORPHA:96121
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Self-injurious be... OMIM:619512
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Abnormal repetitive mannerisms, Ataxia, Dysphagia ORPHA:496641
Monosomy 22Q13.3
Hyperactivity, Impaired pain sensation, Hair-pulling, Bruxism, Agenesis of corpus callosum, Cereb... ORPHA:48652
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Low frustrat... ORPHA:319182
Bainbridge-Ropers Syndrome
Self-injurious behavior, Lateral ventricle dilatation, Inferior cerebellar vermis hypoplasia, Rec... OMIM:615485
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Developmental And Epileptic Encephalopathy 2
EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:300672
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Short attention span, Aggressive behavior, EEG with central focal... OMIM:301066
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Pain insensitivity, Cerebellar vermis hypoplasia, Ataxia, Truncal ataxia, Dys... OMIM:617330
Cystinosis
Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Mucopolysaccharidosis Type 2
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det... ORPHA:580
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Irritability, Lateral ventricle dilatatio... OMIM:615873
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Kleefstra Syndrome
Aggressive behavior, Abnormal repetitive mannerisms, Self-injurious behavior, Agenesis of corpus ... ORPHA:261494
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Developmental And Epileptic Encephalopathy 100
Chorea, EEG with photoparoxysmal response, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repe... OMIM:619777
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Self-injurious behav... ORPHA:468631
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Trichothiodystrophy
Reduced social reciprocity, Partial agenesis of the corpus callosum, Diffuse cerebellar atrophy, ... ORPHA:33364
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Attent... OMIM:614756
Kinsship Syndrome
Abnormal repetitive mannerisms, Dandy-Walker malformation, Bruxism OMIM:619297
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Cerebellar hypoplasia, A... ORPHA:513456
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:464311
Oculocerebrorenal Syndrome Of Lowe
Depression, Self-injurious behavior, EEG abnormality, Compulsive behaviors, Attention deficit hyp... ORPHA:534
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms OMIM:301040
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms ORPHA:508533
Williams Syndrome
Ataxia, Dysmetria, Depression, Chiari malformation, Compulsive behaviors, Attention deficit hyper... ORPHA:904
Norrie Disease
Self-injurious behavior, Irritability, EEG abnormality, Attention deficit hyperactivity disorder,... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Agenesis of corpus callosum, Abnormal repetitive mannerisms ORPHA:508498
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Abnormal repetitive mannerisms ORPHA:464306
1P36 Deletion Syndrome
Abnormal repetitive mannerisms, Polyphagia, Self-injurious behavior, EEG abnormality, Dysphagia, ... ORPHA:1606
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
EEG abnormality, Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:301044
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms OMIM:618653
Ogden Syndrome
Irritability, Abnormal repetitive mannerisms, Dysphagia OMIM:300855
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Impaired pain sensation, Enl... ORPHA:2152
Arboleda-Tham Syndrome
Abnormal repetitive mannerisms, Dysphagia OMIM:616268
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sensation, Enlarged ce... ORPHA:261537
Coffin-Siris Syndrome 12
Enlarged cerebellum, Chiari malformation, Abnormal repetitive mannerisms OMIM:619325
Wolf-Hirschhorn Syndrome
Agenesis of corpus callosum, Abnormal repetitive mannerisms, EEG abnormality OMIM:194190
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyper... OMIM:259050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sensation, Enlarged ce... ORPHA:261552
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:612474
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms 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

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
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter