Gene Summary

Name:
janus kinase and microtubule interacting protein 2
Synonyms:
D930046L20Rik,  6430702L21Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased anxiety-related response Jakmip2em1(IMPC)J HOM Early adult 8.19×10-06
preweaning lethality, incomplete penetrance Jakmip2em1(IMPC)J HOM   Early adult 0.00
hyperactivity Jakmip2em1(IMPC)J HOM   Early adult 2.76×10-12
increased startle reflex Jakmip2em1(IMPC)J HOM Early adult 2.54×10-05
abnormal auditory brainstem response Jakmip2em1(IMPC)J HOM   Early adult 3.08×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

16 Images

Combined SHIRPA and Dysmorphology

Images

6 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Jakmip2 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 Jakmip2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Immunodeficiency 8
Hyperactivity OMIM:615401
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Dystonia 11, Myoclonic
Anxiety, Agoraphobia, Torticollis, Depression, Writer's cramp, Tremor OMIM:159900
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Myoclonus-Dystonia Syndrome
Dystonia, Anxiety, Panic attack, Personality disorder, Torticollis, Depression, Writer's cramp ORPHA:36899
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Hyperactivity OMIM:616657
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Parkinsonism With Polyneuropathy
Resting tremor, Anxiety, Decreased amplitude of sensory action potentials, Decreased motor nerve ... OMIM:619279
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Anxiety, Paroxysmal dystonia, Normal interictal EEG OMIM:602066
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive beh... ORPHA:3077
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Aggressive behavior OMIM:239500
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Dystonia, Hyperactivity, EEG with generalized epileptifor... ORPHA:88616
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:248510
Landau-Kleffner Syndrome
Anxiety, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Emotio... ORPHA:98818
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix ORPHA:100973
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity, Aggressive behavior, Personality... ORPHA:2382
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Aggressive behavior, Tremor OMIM:619470
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Aggressive behavior, Tremor OMIM:300983
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Dystonia, Focal dystonia, Generalized dystonia, P... ORPHA:52368
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Glycine Encephalopathy
Irritability, Impulsivity, Hyperactivity, Aggressive behavior OMIM:605899
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Anxiety, Hyperactivity, Aggressive behavior, Posteriorly rotated ears, Macrotia OMIM:609425
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Low-set ears, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactiv... OMIM:618718
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Depression, Attention... OMIM:261600
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity OMIM:616977
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Prominent crus of helix, Hyperactivity, Aggressive behavior, Macrotia, Abnormality of su... OMIM:301013
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Tremor OMIM:612716
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Tremor, Decreased nerve conduction velocity, Emot... ORPHA:206443
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, EEG with focal sharp slow waves, Interictal epileptiform ... ORPHA:1929
Dystonia 26, Myoclonic
Dystonia, Anxiety, Blepharospasm, Laryngeal dystonia, Torticollis, Depression OMIM:616398
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Tremor OMIM:615924
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Low-set ears, Hyperactivity, Aggressive behavior, Posteriorly rotated ears OMIM:617773
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Succinic Semialdehyde Dehydrogenase Deficiency
EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Macrotia, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Hyperactivity, Sensorineural hearing impairment, Aggressive behavior OMIM:618342
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Depression OMIM:619467
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, EEG abnormality, Hyperactivity, Inappropriate laughter ORPHA:411515
Stiff Person Spectrum Disorder
Emotional lability, Anxiety, Exaggerated startle response, Agoraphobia ORPHA:3198
Cln5 Disease
EEG with generalized slow activity, Anxiety, Hyperactivity, EEG with spike-wave complexes, Aggres... ORPHA:228360
Gm2 Gangliosidosis, Ab Variant
Dystonia, Anxiety, Inappropriate behavior, Exaggerated startle response, Abnormal fear/anxiety-re... ORPHA:309246
Juvenile Huntington Disease
Depression, Hyperactivity, Dystonia, Irritability ORPHA:248111
Early-Onset Schizophrenia
Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Impairment in personality functioning, E... ORPHA:96369
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
EEG abnormality, Dystonia, Hyperactivity, Aggressive behavior, Impulsivity ORPHA:500180
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Myoclonic-Astatic Epilepsy
EEG with generalized slow activity, Interictal epileptiform activity, EEG with irregular generali... ORPHA:1942
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior ORPHA:382
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Impulsivity, Aggressive behavior ORPHA:101039
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Bipolar affective disorder,... ORPHA:485350
Ck Syndrome
Irritability, Hyperactivity, Posteriorly rotated ears, Aggressive behavior ORPHA:251383
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Ck Syndrome
Irritability, Hyperactivity, Posteriorly rotated ears, Aggressive behavior OMIM:300831
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:457260
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Macrotia, Aggressive behavior OMIM:300558
Optic Atrophy 11
Hyperactivity, Macrotia, Facial diplegia, Optic atrophy, Hearing impairment OMIM:617302
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hearing impairment, Hyperactivity, Optic atrophy, Aggressive behavior ORPHA:369939
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Impulsivity, Hyperactivity OMIM:300143
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior OMIM:615516
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Low frustration tolerance, Anxiety, EEG with photoparoxysmal ... ORPHA:168491
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with generalized slow activity, Low frustration tolerance, Interictal epileptiform activity, ... ORPHA:163681
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Stiff-Person Syndrome
Opisthotonus, Anxiety, Exaggerated startle response, Depression, Agoraphobia OMIM:184850
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Head titubation ORPHA:3240
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Infantile Neuroaxonal Dystrophy
Dystonia, Hyperactivity, Abnormal autonomic nervous system physiology, Emotional lability, Impuls... ORPHA:35069
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Suicidal ideation, Dystonia, Resting tremor, Opti... ORPHA:909
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Macrotia, Attention deficit hyperactivity disorder OMIM:618504
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, EEG abnormality, Aggressive behavior OMIM:610042
Infantile Krabbe Disease
Opisthotonus, Inappropriate crying, Decreased nerve conduction velocity, Irritability, Prolonged ... ORPHA:206436
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:300958
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Emotional lability, Irritability, Lim... OMIM:608643
Fragile X Syndrome
Self-biting, Hyperactivity, Macrotia OMIM:300624
X-Linked Creatine Transporter Deficiency
Dystonia, Hyperactivity, Athetosis, Aganglionic megacolon, Self-mutilation ORPHA:52503
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Irritability, Macrotia, Dep... ORPHA:449291
Adenylosuccinase Deficiency
Happy demeanor, Opisthotonus, Low-set ears, Hyperactivity, Aggressive behavior, Inappropriate lau... OMIM:103050
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Disinhibition, Hyperactivity, Aggressive behavior, Inappropriate ... ORPHA:43
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Sensorineural hearing impairment, Aggressive behavior OMIM:600430
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Hyperactivity, Inappropriate laughter, Macrotia, Thickened helices OMIM:614104
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Optic nerve hypoplasia, Decreased ner... ORPHA:101085
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Macrotia, Aggressive behavior ORPHA:391307
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Self-injurious behavior, Hyperactivity, Posteriorly rotated ears, Bipolar affective... OMIM:601853
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, EEG abnormality, Hyperactivity, EEG with abnormally slow frequencies, Inappropria... ORPHA:98794
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
16P12.1P12.3 Triplication Syndrome
Large earlobe, Nail-biting, Low-set ears, Anxiety, Hyperactivity, Skin-picking, Attention deficit... ORPHA:485405
Gm2-Gangliosidosis, Ab Variant
Apathy, Dystonia, Exaggerated startle response OMIM:272750
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:252920
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Emotional lability, Self-mutilation,... OMIM:256800
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Intention tremor, Hyperactivity, Emotional lability, Impulsivity, Optic atrophy OMIM:610217
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Optic atrophy, Exaggerated startle response ORPHA:320406
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation, Hearing impairment ORPHA:412035
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Angelman Syndrome
Hyperactivity, EEG abnormality, Limb tremor, Paroxysmal bursts of laughter OMIM:105830
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Cockayne Syndrome Type 1
Hearing impairment, Macrotia, Absent brainstem auditory responses, Optic atrophy, Abnormality of ... ORPHA:90321
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Angelman Syndrome
Happy demeanor, EEG abnormality, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive beha... ORPHA:72
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears, Hyperactivity, Aggressive behavior ORPHA:401973
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Anxiety, Dystonia, Exaggerated startle response ORPHA:438216
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low frustration tolerance, Low-set ears, Hyperactivity, Aggressive behavior, Emotional lability, ... OMIM:309520
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Tay-Sachs Disease
Dystonia, Anxiety, Laryngeal dystonia, Exaggerated startle response, Depression, Optic atrophy, H... ORPHA:845
47,Xyy Syndrome
Hyperactivity, Impulsivity, Low-set ears, Attention deficit hyperactivity disorder ORPHA:8
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia, Optic atrophy ORPHA:79330
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Low frustration tolerance, Self-mutilation, Macrotia OMIM:300486
Rauch-Steindl Syndrome
Anxiety, Prominent crus of helix, Hyperactivity, Aggressive behavior, Attached earlobe, Protrudin... OMIM:619695
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Posteriorly rotate... ORPHA:171929
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Choreoacanthocytosis
Aggressive behavior, Apathy, Hair-pulling, Depression, Socially inappropriate behavior, Hyperacti... ORPHA:2388
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity OMIM:609727
Cockayne Syndrome B
Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked p... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked p... OMIM:216400
Early Infantile Epileptic Encephalopathy
EEG abnormality, Dystonia, Self-injurious behavior, Uni- and bilateral multifocal epileptiform di... ORPHA:1934
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Sensorineural hearing impairment, Low-set, posteriorly rotated ears, Exaggerated startl... ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Legius Syndrome
Dystonia, Hearing impairment, Hyperactivity, Vestibular schwannoma, Attention deficit hyperactivi... ORPHA:137605
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Hyperactivity, Irritability, Protruding ear, Hair-pulling, Hypsarrhythmia ORPHA:447997
Gm1 Gangliosidosis Type 1
Low-set ears, Macrotia, Hearing impairment, Exaggerated startle response ORPHA:79255
Histidinemia
Hyperactivity ORPHA:2157
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Low-set ears, Optic atrophy OMIM:617527
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Argininemia
Irritability, Hyperactivity OMIM:207800
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Blepharospasm, Hyperactivity, Depression, Optic atrophy, Tremor OMIM:234200
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Nail-biting, Hyperactivity, Self-mutilation, Abnorma... ORPHA:642
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Low-set ears, Microtia, Posteriorly rotated ears, Exaggerated startle response, At... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Dystonia, Exaggerated startle response ORPHA:438213

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 Jakmip2

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 Jakmip2.

No publications found that use IMPC mice or data for Jakmip2.

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MGI Allele Allele Type Produced
Jakmip2em1(IMPC)J Intra-exon deletion Mice

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