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Gene: Chd8 MGI:1915022

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Gene Summary

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

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Chd8em1(IMPC)Mbp HOM   E9.5 0.00
preweaning lethality, complete penetrance Chd8em1(IMPC)Mbp HOM   Early adult 0.00
decreased locomotor activity Chd8em1(IMPC)Mbp HET Early adult 7.98×10-07

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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

40 Images

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X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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Gross Morphology Embryo E9.5

Images

7 Images

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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
14Q11.2 Microduplication Syndrome
Microcephaly, Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Intellectual Developmental Disorder With Autism And Macrocephaly
Pica, Recurrent hand flapping, Constipation OMIM:615032

The table below shows human diseases predicted to be associated to Chd8 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
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, EEG abnormality... OMIM:608636
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Autism
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... OMIM:607373
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Hereditary Geniospasm
EEG abnormality, Abnormal social behavior ORPHA:53372
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Depression, Irritability, Tics... ORPHA:66624
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Microcephaly, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium ORPHA:208441
Childhood Disintegrative Disorder
Bowel incontinence, Social and occupational deterioration, Dementia, Abnormal emotion, Progressiv... ORPHA:168782
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, EEG abnormality, Impaired social interactions, Abnorm... OMIM:617820
Hsd10 Disease
Short attention span, Microcephaly, Tremor, Gastrointestinal dysmotility, Choreoathetosis, Dyspha... ORPHA:391417
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... ORPHA:3077
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, High, narrow palate, Compulsive behaviors, Attention deficit hyperactivity ... ORPHA:444002
Young-Onset Parkinson Disease
Short attention span, Restless legs, Dystonia, Gastroparesis, Impulsivity, Tremor, Diarrhea, Depr... ORPHA:2828
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... OMIM:608049
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Diarrhea, Tongue thrusting, Limb tr... OMIM:608643
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Increased fecal coproporphyrin 3, Confusion, Nausea, Abnormal fear-induced behavior... ORPHA:100924
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Unsteady ga... ORPHA:1942
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abnormal soc... ORPHA:1020
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Impaired social interactions, Attent... OMIM:610042
Childhood Absence Epilepsy
Depression, Punding, Attention deficit hyperactivity disorder, Abnormal social behavior, EEG with... ORPHA:64280
Metachromatic Leukodystrophy, Adult Form
Short attention span, Dystonia, Bowel incontinence, Progressive psychomotor deterioration, Depres... ORPHA:309271
Hyperekplexia 2
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia OMIM:614619
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotiona... ORPHA:309256
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Vomiting, Secondary microcephaly OMIM:616881
Hyperekplexia 3
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia OMIM:614618
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Gastroesophageal reflux, Depression OMIM:620114
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Agitation, High palate, Secondary micro... OMIM:618056
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Irritability, Microcephaly OMIM:617864
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Dystonia, Emotional lability, Abnorm... ORPHA:309263
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Hydrocephalus, Gastr... ORPHA:93932
48,Xxxy Syndrome
Tremor, Cleft palate, Irritability, Gastroesophageal reflux, Constipation, Attention deficit hype... ORPHA:96263
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Microcephaly OMIM:618201
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Dystonia, Tremor, Depression, Dysphagia, Memo... ORPHA:845
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Microcephaly, High palate, Dystonia ORPHA:438216
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Multifocal epileptiform discharges, Irritability, EEG abnormality, Abnormal so... ORPHA:1675
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cessation of head growth, High palate, Cognitive impairment, Dyspha... OMIM:617527
Niemann-Pick Disease Type C
Limb dystonia, Axial dystonia, Dystonia, Progressive neurologic deterioration, Aggressive behavio... ORPHA:646
Asparagine Synthetase Deficiency
Exaggerated startle response, Microcephaly, Tremor, Irritability, Gastroesophageal reflux, Primar... OMIM:615574
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Microcephaly, Dysphagia OMIM:617301
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Hydrocephalus, Exaggerated startle response, Microcephaly OMIM:617281
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Gastroesophageal reflux OMIM:608800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Sandhoff Disease
Macroglossia, Exaggerated startle response, Chronic diarrhea, Progressive psychomotor deterioration OMIM:268800
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Hypsarrhythmia, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Abnormal cortical gyration, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive... ORPHA:314647
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Microcephaly, High palate, Dystonia, Impaired oropharyngeal swallow... ORPHA:521426
Prader-Willi Syndrome Due To Translocation
Microcephaly, Cleft palate, Head-banging, High palate, Impaired social interactions, Attention de... ORPHA:177907
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Abnormal fear-induced be... ORPHA:353281
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Holoprosencephaly, Exaggerated startle response OMIM:253800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Microcephaly, Dysphagia OMIM:618367
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Mend Syndrome
Hyperactivity, Abnormal social behavior, Abnormal auditory evoked potentials, Aggressive behavior ORPHA:401973
Koolen-De Vries Syndrome Due To A Point Mutation
EEG with focal epileptiform discharges, EEG abnormality, Inappropriate laughter, Attention defici... ORPHA:363965
17Q21.31 Microdeletion Syndrome
EEG with focal epileptiform discharges, EEG abnormality, Inappropriate laughter, Attention defici... ORPHA:363958
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Noncommunicating... ORPHA:805
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Gm1 Gangliosidosis Type 1
Macroglossia, Exaggerated startle response, Dystonia ORPHA:79255
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Abnormal fear-induced be... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Abnormal fear-induced be... ORPHA:353277
Trichothiodystrophy
Reduced social reciprocity, Gait ataxia ORPHA:33364
Williams Syndrome
Colonic diverticula, Peptic ulcer, Malabsorption, Microcephaly, Abnormal gastric mucosa morpholog... ORPHA:904
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Bruxism ORPHA:48652
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Microcephaly, High palate, Attention deficit hyperactivity disorder... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia, Constipation, Gastroesophageal reflux, Dysphagia, Stereot... ORPHA:438213
14Q11.2 Microduplication Syndrome
Microcephaly, Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Intellectual Developmental Disorder With Autism And Macrocephaly
Pica, Recurrent hand flapping, Constipation OMIM:615032

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.

Phenotype Allele Zygosity Sex Life Stage
Spleen - MPATH pathological process term hyperplasia Chd8em1(IMPC)Mbp HET Early adult
Spleen - MPATH pathological entity term lymphoid hyperplasia Chd8em1(IMPC)Mbp HET Early adult
Lymph node - MPATH pathological process term hyperplasia Chd8em1(IMPC)Mbp HET Early adult
Lymph node - MPATH pathological entity term lymphoid hyperplasia Chd8em1(IMPC)Mbp HET Early adult

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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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
Chd8em1(IMPC)Mbp Exon Deletion Mice, Tissue
Chd8tm49072(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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