Gene Summary

Name:
chromodomain helicase DNA binding protein 8
Synonyms:
5830451P18Rik,  Duplin

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
hypoactivity Chd8em1(IMPC)Mbp HET   Early adult 9.81×10-05
impaired glucose tolerance Chd8em1(IMPC)Mbp HET   Early adult 7.20×10-05
preweaning lethality, complete penetrance Chd8em1(IMPC)Mbp HOM   Early adult 0.00

Download data as:  TSV  XLS

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

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

Human diseases caused by Chd8 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.

The table below shows human diseases associated to Chd8 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, 18
Constipation, Anxiety OMIM:615032

The table below shows human diseases predicted to be associated to Chd8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, EEG abnormality, Hyperactivity ORPHA:436151
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Pachygyria OMIM:606053
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Abnormal social behavior, ... ORPHA:255
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Bowel incontinence, Soc... ORPHA:168782
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Pandas
Claustrophobia, Encopresis, Depression, Agoraphobia, Separation insecurity, Emotional lability, I... ORPHA:66624
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Impulsivity, Anxiety, Hyperactivity ORPHA:101039
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Hsd10 Disease
Tremor, Dysphagia, Abnormal social behavior, Microcephaly, Gastrointestinal dysmotility ORPHA:391417
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness, EEG abnormality OMIM:300801
Myoclonic-Astatic Epilepsy
Impaired social interactions, Abnormal emotion/affect behavior, EEG with generalized slow activit... ORPHA:1942
Young-Onset Parkinson Disease
Impaired social interactions, Tremor, Dementia, Depression, Apathy, Constipation, Nausea, Panic a... ORPHA:2828
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Anxiety, EEG with spike-wave complexes (2.... ORPHA:64280
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
Poor eye contact, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Inappropriate beha... ORPHA:309246
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Depression, Poor eye contact, Self-in... ORPHA:449291
Stiff Person Spectrum Disorder
Exaggerated startle response, Agoraphobia, Anxiety, Emotional lability ORPHA:3198
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Waddling gait, Dystonia, Shyness ORPHA:280763
Tay-Sachs Disease
Apathy, Exaggerated startle response, Psychomotor deterioration, Dementia OMIM:272800
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Aggressive behavior, Ataxia, EEG abnormality, Hyperactivity OMIM:610042
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Progressive gait ataxia, Abnormal social behavior, Toe walking, Emotional ... ORPHA:309256
Tonne-Kalscheuer Syndrome
Shyness, Aggressive behavior, Self-injurious behavior, Anxiety, Broad-based gait OMIM:300978
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Dementia, Abnormal social behavior, Semantic dementia, Memory impairment ORPHA:1020
Stiff-Person Syndrome
Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety OMIM:184850
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Hyperactivity ORPHA:530983
Metachromatic Leukodystrophy, Adult Form
Dementia, Depression, Abnormal social behavior, Intention tremor, Emotional lability, Bowel incon... ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Progressive gait ataxia, Abnormal social behavior, Emotional lability, Decreased nerve ... ORPHA:309263
Autism, Susceptibility To, 18
Constipation, Anxiety OMIM:615032
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Aggressive behavior, Ataxia, Multifocal epileptiform discharges, EEG abnormalit... ORPHA:369891
Cri-Du-Chat Syndrome
Self-mutilation, Overfriendliness, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivit... OMIM:123450
48,Xxxy Syndrome
Tremor, Abnormal social behavior, Constipation, Gastroesophageal reflux, Irritability, Anxiety, C... ORPHA:96263
Aromatic L-Amino Acid Decarboxylase Deficiency
Constipation, Gastroesophageal reflux, Emotional lability, Limb tremor, Exaggerated startle respo... OMIM:608643
Gm2-Gangliosidosis, Ab Variant
Apathy, Exaggerated startle response, Dementia OMIM:272750
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Developmental And Epileptic Encephalopathy 68
Microcephaly, Exaggerated startle response OMIM:618201
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Exaggerated startle response, Microcephaly, Anxiety ORPHA:438216
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Low frustration tolerance, Attention deficit hyperactivity disorder OMIM:619293
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Ataxia, Abnormal cortical gyration, Unsteady gait,... ORPHA:314647
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Multifocal epileptiform discharges, Irritability, EE... ORPHA:1675
Fg Syndrome Type 1
Abnormal social behavior, Constipation, Gastroesophageal reflux, Anal atresia, Malrotation of col... ORPHA:93932
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Bipolar affective disorder, Tremor, Disinhibition, Aggressi... ORPHA:646
Choreoacanthocytosis
Hair-pulling, Emotional lability, Head-banging, Progressive inability to walk, Falls, Hyperactivi... ORPHA:2388
Luscan-Lumish Syndrome
Anxiety, Shyness, Aggressive behavior OMIM:616831
49,Xxxxy Syndrome
Overfriendliness, Shyness, Low frustration tolerance, Irritability, Attention deficit hyperactivi... ORPHA:96264
Tay-Sachs Disease
Tremor, Depression, Dysphagia, Exaggerated startle response, Anxiety, Memory impairment ORPHA:845
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Sandhoff Disease
Progressive psychomotor deterioration, Macroglossia, Chronic diarrhea, Exaggerated startle response OMIM:268800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Exaggerated startle response, Cessation of head growth, Cognitive impairment, High pal... OMIM:617527
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Abnormal social behavior, Head-banging, Anxiety, Atte... ORPHA:177907
Asparagine Synthetase Deficiency
Microcephaly, Exaggerated startle response, Progressive microcephaly OMIM:615574
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response, Microcephaly OMIM:617301
X-Linked Intellectual Disability, Cilliers Type
Shyness ORPHA:163971
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Abnormal social behavior, Self-injurious behavior, Impulsivity, ... ORPHA:805
Mend Syndrome
Abnormal social behavior, Abnormal auditory evoked potentials, Aggressive behavior, Hyperactivity ORPHA:401973
Trichotillomania
Hair-pulling OMIM:613229
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Inappropriate laughter, EEG with focal epileptiform discharges, Abnormal social... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Inappropriate laughter, EEG with focal epileptiform discharges, Abnormal social... ORPHA:363958
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hyperactivity, Hypsarrhythmia ORPHA:447997
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Plaa-Associated Neurodevelopmental Disorder
High palate, Exaggerated startle response, Microcephaly, Impaired oropharyngeal swallow response ORPHA:521426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Exaggerated startle response, Hydrocephalus OMIM:253800
1P21.3 Microdeletion Syndrome
Self-mutilation, Self-injurious behavior, Shyness, Aggressive behavior ORPHA:293948
Koolen-De Vries Syndrome
Overfriendliness ORPHA:96169
Gm1 Gangliosidosis Type 1
Macroglossia, Exaggerated startle response ORPHA:79255
Trichothiodystrophy
Impaired social reciprocity, Gait ataxia ORPHA:33364
Williams Syndrome
Overfriendliness, Macroglossia, Tremor, Depression, Abnormal social behavior, Constipation, Gastr... ORPHA:904
Van Esch-O'Driscoll Syndrome
Shyness OMIM:301030
Monosomy 22Q13.3
Hair-pulling, Hyperactivity ORPHA:48652
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anxiety, Shyness, Aggressive behavior, Ataxia ORPHA:466791
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dysphagia, Constipation, Gastroesophageal reflux, 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 Chd8

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 Chd8.

No publications found that use IMPC mice or data for Chd8.

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MGI Allele Allele Type Produced
Chd8em1(IMPC)Mbp Exon Deletion Mice, Tissue
Chd8tm49072(L1L2_Bact_P) Targeting vectors

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