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:
Marlin-1,  5830437M04Rik,  C330021K24Rik,  Gababrbp

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, X-Linked 3
EEG abnormality, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300496
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300495
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, EEG abnormality, Stereotypy, Impaired use of nonverb... OMIM:607373
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300425
Autism
Impaired ability to form peer relationships, EEG abnormality, Stereotypy, Impaired use of nonverb... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, EEG abnormality, Stereotypy, Impaired use of nonverb... OMIM:608636
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Disinhibition, Aggressive behavior, Abnormality of extrapyramidal motor funct... ORPHA:275864
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Dementia, Abnormality of extrapyramidal motor function, Depression, Ataxia, Emotional lab... OMIM:615362
Creutzfeldt-Jakob Disease
Gait ataxia, Extrapyramidal muscular rigidity, Dementia, Depression, Apathy, Hemiparesis, Abnorma... OMIM:123400
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608631
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Depression, Chorea, Ataxia, Parkinsonism, Myoclonus, Anxiety, Upper motor neuron dysfunct... ORPHA:401901
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior OMIM:618221
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Pachygyria, Stereotypy OMIM:606053
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Dementia, Depression, Head tremor, Action tremor, Progressive cerebellar atax... OMIM:604326
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Hypsarrhythmia, Chorea, Hypoplasia of the corpus callosum... ORPHA:88616
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy,... OMIM:617862
Unilateral Focal Polymicrogyria
Impaired use of nonverbal behaviors, EEG with frontal focal spikes, EEG with parietal focal spike... ORPHA:268947
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, EEG abnormality ORPHA:436151
Pick Disease Of Brain
Emotional blunting, Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Frontot... OMIM:172700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Disinhibition, Aggressive behavior, Apathy, Frontotemporal dementia, Cerebral cortical atrophy, M... OMIM:600795
Early-Onset Autosomal Dominant Alzheimer Disease
Apraxia, Disinhibition, Neurofibrillary tangles, Dementia, Abnormal social behavior, Hypertonia, ... ORPHA:1020
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Inappropriate crying, Self-injurious behavior, Hyperkinetic movemen... ORPHA:397933
Foxg1 Syndrome
Impaired social interactions, Choreoathetosis, Pachygyria, Inappropriate crying, Hypoplasia of th... ORPHA:561854
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Inappropriate laughter, Aggressive behavior, Chorea, Paroxysmal dyskinesia, Poor coordination, At... OMIM:619150
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Chorea, Apathy, Basal ganglia calcification, Parkinsonism, Anxiety, Cogniti... OMIM:615483
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Aggressive behavior, Ataxia, Cortical dysplasia, EEG abnormality, F... OMIM:610042
Huntington Disease-Like 1
Basal ganglia gliosis, Incoordination, Aggressive behavior, Dementia, Depression, Chorea, Anxiety... OMIM:603218
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Frontotemporal cerebral atrophy... ORPHA:412066
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Interictal EEG... ORPHA:79264
Atypical Rett Syndrome
Impaired social interactions, Pill-rolling tremor, Gait ataxia, Apraxia, Tremor, Inappropriate la... ORPHA:3095
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Dementia, Cerebral atrophy, Poor fine motor coordination, Abnorm... ORPHA:98762
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Delayed social development, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebell... ORPHA:208513
Progressive Non-Fluent Aphasia
Apraxia, Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Depression, EEG... ORPHA:100070
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypoplasia of the corpus callosum, Hypertonia, Self-injurious behavior, Secondary microcephaly, P... OMIM:615282
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Stereotypy, Choreoathetosis OMIM:617270
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Apathy, Frontotemporal dementia, Emotional lability, Babinski sign, Stereotypy, Sp... OMIM:612069
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Motor deterioration, Cerebellar atrophy, Abnormal nervous... OMIM:256731
Late Infantile Neuronal Ceroid Lipofuscinosis
Low frustration tolerance, Periventricular white matter hyperdensities, Spasticity, Cortical myoc... ORPHA:168491
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Impaired social interactions, Temporal cortical atrophy, Frontal cortical atrophy, Poor eye conta... ORPHA:137831
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Aggressive behavior, De... OMIM:615157
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Hypsarrhythmia, Cerebral atrophy, Cerebral white matter hypoplasia, Irritability, Stereotypical h... ORPHA:500545
N-Acetylaspartate Deficiency
Self-mutilation, Microcephaly, Truncal ataxia, Stereotypy OMIM:614063
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Microcephaly OMIM:618709
Huntington Disease-Like 2
Dementia, Depression, Chorea, Apathy, Action tremor, Bradykinesia, Irritability, Anxiety, Rigidity OMIM:606438
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Depression, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Irritability, ... OMIM:618093
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cerebral atrophy, Irritability, Stereotypy, Microcephaly, Spasticity OMIM:617393
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Abnormal social behavior, Ataxia, Frontotemporal cerebral ... ORPHA:391417
Baker-Gordon Syndrome
Self-injurious behavior, Hyperkinetic movements, Ataxia, EEG abnormality, Stereotypy, Involuntary... OMIM:618218
Hyperprolinemia, Type I
Stereotypy, EEG abnormality, Aggressive behavior, Ataxia OMIM:239500
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Self-injurious behavior, Hypoplasia of the corpus callosum, EEG abnormality, Stereotypica... OMIM:618760
Severe Intellectual Disability And Progressive Spastic Paraplegia
Shyness, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cer... ORPHA:280763
Cln5 Disease
Dysdiadochokinesis, Tremor, EEG with spike-wave complexes, Truncal ataxia, Corpus callosum atroph... ORPHA:228360
Developmental And Epileptic Encephalopathy 58
Secondary microcephaly, Spastic diplegia, Stereotypy, Hypsarrhythmia OMIM:617830
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Disinhibition, Dementia, Depression, Poor fine ... OMIM:300623
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Dysplastic corpus callosum, Overfriendliness, Primary microcephaly OMIM:618010
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Chorea, Self-injurious behavior, Cerebral atrophy, Cerebellar atrophy, Stereotypy, S... OMIM:618917
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Hypoplasia of the corpus callosum, Poor eye contact, Poor coordination, Ataxia, Happ... OMIM:617695
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Disinhibition, Neurofibrillary tangles, Hypersexuality, Apathy, Frontotemporal dementia,... OMIM:607485
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar dysplasia, Dysplastic corpus... OMIM:604213
Pandas
Claustrophobia, Clumsiness, Depression, Tics, Chorea, Agoraphobia, Emotional lability, Separation... ORPHA:66624
Smith-Magenis syndrome
Self-mutilation, Stereotypy DECIPHER:8
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, EEG abnormality, Stereotypy, Impaired use of nonverb... OMIM:608049
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Dementia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Cho... ORPHA:309271
Dopa-Responsive Dystonia
Tremor, Abnormality of extrapyramidal motor function, Depression, Abnormal social behavior, Slurr... ORPHA:255
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Anxiety, Stereotypy, Microcephaly OMIM:609425
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Dementia, Blepharospasm, Ataxia, Giant somatosensory e... OMIM:607876
Cdkl5-Deficiency Disorder
Inappropriate laughter, Poor eye contact, Multifocal epileptiform discharges, Impaired pain sensa... ORPHA:505652
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Abnormal soci... ORPHA:309263
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Impulsivity, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Hypoplasia of the corpus callosum, Arnold-Chiari type I malformation, Cer... OMIM:618859
Christianson Syndrome
Conspicuously happy disposition, Aplasia/Hypoplasia of the cerebellum, Gait ataxia, Truncal ataxi... ORPHA:85278
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Depression, Interictal epileptiform activity, Anxiety, Stereotypy, Cogniti... ORPHA:98784
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Corpus callosum atrophy, Cerebellar vermis atrophy, Tongue thrusting, Abnor... ORPHA:77299
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, EEG abnormality, Stereotypy, Micr... OMIM:618718
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Hypsarrhythmia, Hypoplasia of the corpus callosum, Poor eye contact, ... ORPHA:411986
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Oculomotor apraxia, Head titubation, Ataxia, Cerebellar dysplasia, Dilated fourt... ORPHA:370022
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Speech apraxia, Self-injurious behavior, Anxiety, Stereotypy OMIM:613670
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements ORPHA:98807
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Abnormal cerebellar vermis morphology, Type II lissencephaly, Spastic... ORPHA:300570
Rett Syndrome, Congenital Variant
Impaired social interactions, Apraxia, Pachygyria, Inappropriate crying, Chorea, Hypoplasia of th... OMIM:613454
Developmental And Epileptic Encephalopathy 6B
EEG with spike-wave complexes (>3.5 Hz), Chorea, Hypoplastic hippocampus, Hyperkinetic movements,... OMIM:619317
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Stereotypy OMIM:613886
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Depression, Upper limb spasticity, Hyperkinetic movements, Cerebellar dy... ORPHA:457240
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Poor eye contact, Secondary microcephaly, Ataxia, Stereotypy, Microcephaly, Spast... OMIM:300912
Developmental And Epileptic Encephalopathy 30
Stereotypy, Hypsarrhythmia OMIM:616341
Gm2 Gangliosidosis, Ab Variant
Punctate periventricular T2 hyperintense foci, Chorea, Progressive spastic quadriplegia, Cerebral... ORPHA:309246
Mental Retardation, Autosomal Recessive 39
Microcephaly, Aggressive behavior, Stereotypy OMIM:615541
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Gait ataxia, Poor eye contact, Cerebellar vermis hypoplasia, Happy demeanor, Stereotypy, Microcep... OMIM:617807
Mental Retardation, Autosomal Recessive 41
Anxiety, Stereotypy OMIM:615637
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Punding, Anxiety, EEG with spike-wave comp... ORPHA:64280
Young-Onset Parkinson Disease
Impaired social interactions, Tremor, Rigidity, Dementia, Depression, Apathy, Bradykinesia, Panic... ORPHA:2828
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Tremor, Poor coordination, Ataxia, Abnormality of pain sensation, R... ORPHA:544254
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Clumsiness, Speech apraxia, Low frustration tolerance, Cere... ORPHA:646
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Chorea, Hypoplasia of the corpus callosum, Abnormal cerebra... ORPHA:178469
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy, Micro... OMIM:619092
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Clumsiness, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, ... ORPHA:309256
Bilateral Frontoparietal Polymicrogyria
Abnormal pyramidal sign, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebral dysmyelinat... ORPHA:101070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Myoclonic-Astatic Epilepsy
Impaired social interactions, Tremor, Abnormal emotion/affect behavior, Abnormal pyramidal sign, ... ORPHA:1942
Xq28 (MECP2) duplication
Gait ataxia, Depression, Hypoplasia of the corpus callosum, Anxiety, Stereotypy, Progressive spas... DECIPHER:45
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Hypoplastic hippocampus, Abnormal social behavior, Abnormal pyramidal sign, ... ORPHA:314647
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, E... ORPHA:208447
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness, EEG abnormality OMIM:300801
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Emotional lability, Anxiety, Stereotypy, Cognitive impairment, Microcephaly, Paraplegia ORPHA:927
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Depression, Poor eye contact, Self-in... ORPHA:449291
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Abnormal social behavior, Impulsivity, Aggressive behavior ORPHA:101039
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Stereotypy, Upper motor neuron dysfunction, Microcephaly ORPHA:530983
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Microcephaly, Anxiety, Stereotypy OMIM:618906
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Cerebral atrophy, EEG abnormality, Recurrent hand flapping OMIM:617268
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Hypoplasia of the corpus callosum, Abnormal social behavior, Poor eye contact ORPHA:444002
Mental Retardation, Autosomal Dominant 7
Incoordination, Inappropriate laughter, Ataxia, Cerebral cortical atrophy, Stereotypy, Stereotypi... OMIM:614104
Choreoacanthocytosis
Hair-pulling, Hypertonia, Head titubation, Emotional lability, Head-banging, Cerebral cortical at... ORPHA:2388
Tonne-Kalscheuer Syndrome
Tremor, Shyness, Aggressive behavior, Self-injurious behavior, Anxiety, Microcephaly, Spasticity OMIM:300978
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Depression, Pain insensitivity, Poor eye contact, Chorea, Hostility, Atax... OMIM:300260
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Hypoplasia of the corpus callosum, Hypertonia, Primary microce... ORPHA:289266
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Athetoid cerebral palsy, EEG with spike-wave complexes, EEG with series of focal... ORPHA:522077
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Stereotypy, Microcephaly, Repetitive compulsive behavior, Cerebral palsy, Spasticity ORPHA:352490
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Cerebellar hypoplasia, Stereotypy, Agenesis of corpus callosum ORPHA:238750
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Hypoplasia of the corpus callosum, Ataxia, EEG abnormality, Cessa... ORPHA:98794
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing, Hypsarrhythmia OMIM:616056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebral white matter morphology, Ce... OMIM:613153
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Cerebellar cyst, Cerebellar vermis hypoplasia, ... OMIM:615960
Developmental And Epileptic Encephalopathy 87
Hypertonia, Cerebral atrophy, Recurrent hand flapping, Hypsarrhythmia OMIM:618916
Leber Congenital Amaurosis 2
Cerebellar vermis hypoplasia, Eye poking OMIM:204100
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Hypsarrhythmia, Hypoplasia of the corpus callosum, Poor eye co... ORPHA:457351
Angelman Syndrome Due To A Point Mutation
Inappropriate laughter, Ataxia, EEG abnormality, Tongue thrusting, Cessation of head growth, Recu... ORPHA:411511
Distal Xq28 Microduplication Syndrome
Aggressive behavior, Depression, Poor eye contact, Impulsivity, Self-biting, Anxiety, Microcephal... ORPHA:293939
Potocki-Lupski Syndrome
Hypoplasia of the corpus callosum, Poor eye contact, EEG abnormality, Stereotypy, Microcephaly OMIM:610883
5Q14.3 Microdeletion Syndrome
Stereotypy, Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, Frontal cortical at... ORPHA:228384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Angelman Syndrome
Tremor, Inappropriate laughter, Aggressive behavior, Poor eye contact, Self-injurious behavior, A... ORPHA:72
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Overfriendliness, Self-mutilation, Aggressive behavior, Hyperton... OMIM:123450
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Low frustration tolerance, Stereotypy, Arnold-Chiari malformation, Thin corpus ... OMIM:619293
Macrocephaly-Developmental Delay Syndrome
Stereotypy, Self-injurious behavior, Anxiety, EEG with generalized slow activity ORPHA:397612
Smith-Magenis Syndrome
Self-mutilation, Head-banging, EEG abnormality, Stereotypy, Impaired pain sensation OMIM:182290
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... ORPHA:391307
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Ataxia, Paroxysmal bursts of laughter, Stereotypy, Microcephaly ORPHA:228402
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Aggressive behavior, Hypoplasia of the corpus callosum, Spastic gait, Spastic tet... OMIM:619121
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Hypertonia, Self-injurious behavior, Impu... OMIM:618914
Radio-Tartaglia Syndrome
Tremor, Aggressive behavior, Poor eye contact, Ataxia, Impulsivity, Stereotypy, Microcephaly, Age... OMIM:619312
Coffin-Siris Syndrome 6
Tics, Periventricular leukomalacia, Anxiety, Stereotypy OMIM:617808
X-Linked Intellectual Disability, Cantagrel Type
Stereotypy, Hypoplasia of the corpus callosum, Tetraparesis, Cerebral cortical atrophy ORPHA:85277
48,Xxyy Syndrome
Tremor, Depression, Ataxia, Anxiety, Stereotypy ORPHA:10
Cerebral Creatine Deficiency Syndrome 1
Impaired social interactions, Aggressive behavior, Hypoplasia of the corpus callosum, Stereotypy,... OMIM:300352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Hypoplasia of the corpus callosum, Cerebellar dysplasia, Microcephaly, Cerebellar hypoplasia OMIM:613155
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebellar h... ORPHA:500159
Mental Retardation, Autosomal Dominant 40
Microcephaly, Gait ataxia, Stereotypy, Impaired pain sensation OMIM:616579
Luscan-Lumish Syndrome
Shyness, Aggressive behavior, Slurred speech, Anxiety, Arnold-Chiari malformation OMIM:616831
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, Poor eye contact, EEG with generalized slow activity, Myoclonus, Stereotypy, Prog... OMIM:300672
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, EEG abnormality, Anxiety, Repetitive compulsive behavior, Spasticity ORPHA:391372
Shukla-Vernon Syndrome
Cerebellar atrophy, Stereotypy OMIM:301029
Developmental And Speech Delay Due To Sox5 Deficiency
Anxiety, Self-injurious behavior, Aggressive behavior, Stereotypy ORPHA:313892
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Speech apraxia, Paroxysmal dyskinesia, Arnold-Chiari type I malform... ORPHA:261197
Kohlschutter-Tonz Syndrome-Like
Tremor, Hypsarrhythmia, Upper limb spasticity, Ataxia, Multifocal epileptiform discharges, EEG wi... OMIM:619229
Alazami Syndrome
Stereotypical hand wringing, Self-mutilation, Anxiety, Stereotypy ORPHA:319671
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hypsarrhythmia, Clonus, Hypoplasia of the corpus callosum, Hypertonia, Primary micr... ORPHA:447997
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Emotional lability, Limb tremor, Limb hypertonia, Torticollis, Exaggerated startle... OMIM:608643
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal periventricular white matter morphology, Hypertonia, Cortical dysplasia, Cerebral hypopl... ORPHA:468631
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Incoordination, Spastic paraparesis, Aggressive behavior, Ataxia, Multifocal ep... ORPHA:369891
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Head-banging, Dysplastic corpus callosum, Cerebellar atrophy, Stereotypy, M... OMIM:619103
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Stereotypy OMIM:617044
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Recurrent hand flapping OMIM:615516
Niemann-Pick Disease, Type C2
Neurofibrillary tangles, Dementia, Ataxia, Stereotypy, Cataplexy, Spasticity OMIM:607625
Inverted Duplicated Chromosome 15 Syndrome
Microcephaly, Aggressive behavior, Stereotypy, Self-biting ORPHA:3306
Phelan-Mcdermid Syndrome
Impaired social interactions, Abnormal periventricular white matter morphology, Aggressive behavi... OMIM:606232
Snijders Blok-Campeau Syndrome
Stereotypy, Speech apraxia OMIM:618205
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Pri... ORPHA:496641
Pyruvate Carboxylase Deficiency
Basal ganglia gliosis, Tremor, Agenesis of corpus callosum, Cerebral white matter atrophy, Increa... ORPHA:3008
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Cerebell... OMIM:615802
48,Xxxy Syndrome
Tremor, Abnormal social behavior, Irritability, Anxiety, Abnormal aggressive, impulsive or violen... ORPHA:96263
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Hypertonia, Cerebral atrophy, Multifocal epileptiform discharges, Hyper... ORPHA:1675
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Self-injurious behavior, EEG abnormality, Anxiety, Ste... ORPHA:819
White-Sutton Syndrome
Incoordination, Aggressive behavior, Hypoplasia of the corpus callosum, Self-injurious behavior, ... ORPHA:468678
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Microcephaly, Aggressive behavior, Stereotypy OMIM:618825
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Aggressive behavior, Abnormal cerebral white matter morphology, Ataxia, ... ORPHA:457279
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Van Esch-O'Driscoll Syndrome
Unilateral vocal cord paralysis, Increased circulating gonadotropin level, Shyness, Cerebral atro... OMIM:301030
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
47,Xyy Syndrome
Impaired social interactions, Increased circulating gonadotropin level, Cerebellar dysplasia, Imp... ORPHA:8
Rett Syndrome
Limb apraxia, Bradykinesia, Primary microcephaly, EEG abnormality, Stereotypy, Stereotypical hand... ORPHA:778
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Oromotor apraxia, EEG with frontal focal spikes, EEG with parietal focal ... ORPHA:98889
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, EEG abnormality, Tongue thrusting, Cessation of head grow... ORPHA:98795
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Abnormal social behavior, Anterior pituitary hypoplas... ORPHA:177907
X-Linked Intellectual Disability, Cilliers Type
Microcephaly, Increased circulating gonadotropin level, Shyness ORPHA:163971
49,Xxxxy Syndrome
Overfriendliness, Tremor, Shyness, Hypoplasia of the corpus callosum, Arrhinencephaly, Low frustr... ORPHA:96264
Megalocornea-Intellectual Disability Syndrome
Stereotypy, Microcephaly, EEG abnormality, Ataxia ORPHA:2479
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Tremor, Gait ataxia, Aggressive behavior, Primary microcephaly, Stereotypy, Seco... ORPHA:476126
22Q11.2 Duplication Syndrome
Microcephaly, Anxiety, Stereotypy ORPHA:1727
7Q11.23 Microduplication Syndrome
Impaired social interactions, Aggressive behavior, Self-injurious behavior, Cerebellar hypoplasia... ORPHA:96121
Chromosome 5P13 Duplication Syndrome
Agenesis of corpus callosum, Stereotypy OMIM:613174
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, Arnold-Chiari malformation, Aggressive behavior, Self-injurious beh... ORPHA:353281
Bainbridge-Ropers Syndrome
Abnormal cerebral white matter morphology, Hypertonia, Cerebellar vermis hypoplasia, Recurrent ha... ORPHA:352577
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Stereotypy, Cerebral white matter atrophy, Ataxia ORPHA:435638
Wiedemann-Steiner Syndrome
Aggressive behavior, Psychomotor deterioration, Abnormal corpus callosum morphology, Low frustrat... ORPHA:319182
Foxg1 Syndrome Due To 14Q12 Microdeletion
Microcephaly, Agenesis of corpus callosum, Stereotypy ORPHA:261144
Microcephaly 26, Primary, Autosomal Dominant
Pachygyria, Hypoplasia of the corpus callosum, Spastic tetraparesis, Dysplastic corpus callosum, ... OMIM:619179
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Abnormal social behavior, Self-injurious behavior, Impulsivity, ... ORPHA:805
Mental Retardation, Autosomal Dominant 34
Secondary microcephaly, Stereotypy OMIM:616351
Optic Atrophy-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal hippocampus morphology, Repetitive compulsive behavio... ORPHA:401777
Fg Syndrome Type 1
Abnormal social behavior, Abnormal cerebellum morphology, Small pituitary gland, Aplasia/Hypoplas... ORPHA:93932
Mend Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal social behavior, Limb hypertonia... ORPHA:401973
Kleefstra Syndrome 1
Microcephaly, Aggressive behavior, Stereotypy, Apathy OMIM:610253
Kleefstra Syndrome
Self-mutilation, Aggressive behavior, Self-injurious behavior, Cerebral cortical atrophy, Stereot... ORPHA:261494
Trichothiodystrophy
Gait ataxia, Paraplegia/paraparesis, Diffuse cerebellar atrophy, Hypertonia, Abnormal pyramidal s... ORPHA:33364
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Inappropriate laughter, EEG with focal epileptiform discharges, Speech apraxia,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Inappropriate laughter, EEG with focal epileptiform discharges, Speech apraxia,... ORPHA:363958
Congenital Disorder Of Glycosylation, Type Iia
Self-mutilation, Aggressive behavior, Hypertonia, Stereotypy, Microcephaly OMIM:212066
Intellectual Developmental Disorder, Autosomal Recessive 71
Stereotypy OMIM:618504
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Impaired social interactions, Arnold-Chiari malformation, Aggressive behavior, Self-injurious beh... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Impaired social interactions, Arnold-Chiari malformation, Aggressive behavior, Self-injurious beh... ORPHA:353277
Dilated Cardiomyopathy With Ataxia
Bilateral basal ganglia lesions, Ataxia, Action tremor, Lower limb spasticity, Repetitive compuls... ORPHA:66634
Hypotonia, Ataxia, And Delayed Development Syndrome
Gait ataxia, Truncal ataxia, Speech apraxia, Pain insensitivity, Cerebellar vermis hypoplasia, At... OMIM:617330
Helsmoortel-Van Der Aa Syndrome
Stereotypy, Decreased response to growth hormone stimuation test OMIM:615873
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Stereotypy, Speech apraxia ORPHA:529965
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Self-injurious behavior, Tongue thrusting, Microcephaly, Agenesis of corpus... ORPHA:261323
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Self-mutilation, EEG abnormality, Stereotypy, Impaired pain sensation OMIM:619005
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Hypertonia, Opisthotonus, No social interaction, Stereotypy, M... ORPHA:508533
Hydroxykynureninuria
Hypertonia, Stereotypy ORPHA:79155
Crome Syndrome
Microcephaly, Cerebellar dysplasia OMIM:218900
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Aggressive behavior, Impulsivity, Stereotypy, Decreased ner... ORPHA:580
Cystinosis
Abnormal pyramidal sign, Stereotypy ORPHA:213
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Stereotypy, Mi... ORPHA:513456
2Q37 Microdeletion Syndrome
Microcephaly, Stereotypy ORPHA:1001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Pachygyria, Type II lissencephaly, Cerebellar cyst, Partial absence of cerebellar vermis, Cerebel... OMIM:613150
Transketolase Deficiency
Self-injurious behavior, Stereotypy ORPHA:488618
Koolen-De Vries Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Overfriendliness ORPHA:96169
1P21.3 Microdeletion Syndrome
Self-mutilation, Self-injurious behavior, Shyness, Aggressive behavior ORPHA:293948
Norrie Disease
Aplasia/Hypoplasia of the cerebellum, Clonus, Hypertonia, Self-injurious behavior, Cerebral corti... ORPHA:649
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Pseudobulbar paralysis, Shyness, Aggressive behavior, Speech apraxia, Hypoplasia of the corpus ca... ORPHA:466791
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Anxiety, Stereotypy, Microcephaly, ... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Anterior pituitary hypoplasia, Primary microcephaly, Cerebral ... ORPHA:464306
Ogden Syndrome
Microcephaly, Hypertonia, Cerebral atrophy, Stereotypy OMIM:300855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pachygyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebellar cyst, Ce... OMIM:253280
Cardiofaciocutaneous Syndrome 1
Aplasia/Hypoplasia of the corpus callosum, Hypertonia, Oculomotor apraxia, Cerebral cortical atro... OMIM:115150
Mowat-Wilson Syndrome
Happy demeanor, Spasticity, EEG with spike-wave complexes, Hypoplasia of the corpus callosum, Cer... ORPHA:2152
Kinsship Syndrome
Spastic tetraparesis, Primary microcephaly, Myoclonus, Stereotypy, Microcephaly, Dandy-Walker mal... OMIM:619297
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypsarrhythmia, Hypoplasia of the corpus callosum, Poor eye contact, Hypertonia, Spastic tetrapar... OMIM:301044
Williams Syndrome
Overfriendliness, Tremor, Abnormality of extrapyramidal motor function, Depression, Abnormal soci... ORPHA:904
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Poor fine motor coordination, Cerebral white matter hypoplasia, Happy demeanor, Spasticity, Hypop... ORPHA:261537
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Hemiparesis, Tongue thrusting, Abnormalit... ORPHA:369950
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aggressive behavior, Hypoplasia of the corpus callosum, Hypertonia, Ataxia, Cerebral cortical atr... ORPHA:268261
Trichotillomania
Hair-pulling OMIM:613229
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Stereotypy, Microcephaly, Agenes... ORPHA:508498
Oculocerebrorenal Syndrome Of Lowe
Depression, Self-injurious behavior, EEG abnormality, Anxiety, Stereotypy, Clonus ORPHA:534
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Poor fine motor coordination, Cerebral white matter hypoplasia, Happy demeanor, Spasticity, Hypop... ORPHA:261552
1P36 Deletion Syndrome
Self-injurious behavior, Hemiplegia/hemiparesis, Cerebral cortical atrophy, EEG abnormality, Ster... ORPHA:1606
Rubinstein-Taybi Syndrome 1
Self-mutilation, Poor coordination, Agoraphobia, Impulsivity, EEG abnormality, Stereotypy, Abnorm... OMIM:180849
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hypoplasia of the corpus callosum, Microcephaly, Stereotypy OMIM:618653
Monosomy 22Q13.3
Hair-pulling, Cerebellar cortical atrophy, Agenesis of corpus callosum, Impaired pain sensation ORPHA:48652
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypoplasia of the corpus callosum, Cerebral atrophy, Spastic diplegia, Poor coordination, Stereot... OMIM:309590
Arboleda-Tham Syndrome
Microcephaly, Lower limb hypertonia, Stereotypy OMIM:616268
Wolf-Hirschhorn Syndrome
Cavum septum pellucidum, Absent septum pellucidum, Periventricular cysts, EEG abnormality, Stereo... OMIM:194190
Coffin-Siris Syndrome 12
Enlarged cerebellum, Hippocampal atrophy, Stereotypy, Arnold-Chiari malformation, Microcephaly OMIM:619325
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Microcephaly, Stereotypy OMIM:616682
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly OMIM:601374
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Absent septum pellucidum, Abnormality of the anterior pituitary, Hypoplasi... ORPHA:438213
Lowe Oculocerebrorenal Syndrome
Periventricular cysts, Stereotypy, Aggressive behavior OMIM:309000

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.

This service may be affected by the Covid-19 pandemic. See how

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