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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
preweaning lethality, complete penetrance Chd8em1(IMPC)Mbp HOM   Early adult 0.00
embryonic lethality prior to organogenesis Chd8em1(IMPC)Mbp HOM   E9.5 0.00
impaired glucose tolerance Chd8em1(IMPC)Mbp HET   Early adult 8.05×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 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
Intellectual Developmental Disorder With Autism And Macrocephaly
Constipation, Reduced use of typical gestures, Anxiety, Pronoun reversal 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 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Shyness, Gait ataxia OMIM:618221
Autism
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... OMIM:209850
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior OMIM:300496
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... OMIM:608636
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior OMIM:300425
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior ORPHA:436151
Developmental And Epileptic Encephalopathy 15
Inability to walk, Poor eye contact, Irritability, Hypsarrhythmia OMIM:615006
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Impaired social interactions, Inability to walk OMIM:606053
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... ORPHA:168782
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Poor eye contact, Athetosis, Gait disturbance, Hypsarrhythmia OMIM:618141
Dopa-Responsive Dystonia
Arm dystonia, Agoraphobia, Leg dystonia, Constipation, Abnormal social behavior, Depression, Ocul... ORPHA:255
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, EEG with parietal focal spikes, Abnormal nonverbal communicative b... ORPHA:268947
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior OMIM:300495
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Hsd10 Disease
Abnormal social behavior, Microcephaly, Tremor, Choreoathetosis, Dysphagia, Gastrointestinal dysm... ORPHA:391417
Vulto-Van Silfhout-De Vries Syndrome
Gait disturbance, Poor eye contact, Aggressive behavior, Emotional lability OMIM:615828
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Young-Onset Parkinson Disease
Apathy, Impulsivity, Constipation, Cognitive impairment, Depression, Anxiety, Panic attack, Diarr... ORPHA:2828
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... OMIM:608049
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Constipation, Gastroesophageal reflux, ... OMIM:608643
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability ORPHA:3198
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Anxiety, Low self esteem, EEG with spike-wave complexes (2.... ORPHA:64280
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Difficulty walking, Shyness ORPHA:280763
Tonne-Kalscheuer Syndrome
Broad-based gait, Self-injurious behavior, Anxiety, Shyness, Aggressive behavior OMIM:300978
Intellectual Developmental Disorder With Autism And Macrocephaly
Constipation, Reduced use of typical gestures, Anxiety, Pronoun reversal OMIM:615032
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Tip-toe gait, Abnormal social behavior, Gait ataxia, Progres... ORPHA:309256
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Depression, Intention tremor, Me... ORPHA:309271
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Semantic dementia, Memory impairment, Disinhibition, Dementia ORPHA:1020
Hyperekplexia 2
Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia OMIM:614619
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety OMIM:184850
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Poor eye contact, Depression, Anxiety, Shyness, Aggressive behavior, Imp... ORPHA:449291
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response, Dementia OMIM:272750
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Shyness OMIM:300801
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Decreased nerve conduction velocity, Progressive gait ataxia, Abnormal social... ORPHA:309263
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Ataxia, EEG abnormality, Aggressive behavior, Multifocal epileptiform discharges ORPHA:369891
Lamb-Shaffer Syndrome
Ataxia, Abnormal social behavior ORPHA:530983
48,Xxxy Syndrome
Constipation, Gastroesophageal reflux, Cleft palate, Abnormal social behavior, Anxiety, Tremor, A... ORPHA:96263
Cri-Du-Chat Syndrome
Overfriendliness, Conspicuously happy disposition, Self-mutilation, Anxiety, Difficulty walking, ... OMIM:123450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Exaggerated startle response, Microcephaly, Anxiety, Dystonia ORPHA:438216
Developmental And Epileptic Encephalopathy 68
Microcephaly, Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Niemann-Pick Disease Type C
Apathy, Axial dystonia, Cognitive impairment, Mental deterioration, Depression, Abnormal social b... ORPHA:646
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Exaggerated startle response OMIM:618367
Tay-Sachs Disease
Laryngeal dystonia, Exaggerated startle response, Depression, Anxiety, Memory impairment, Tremor,... ORPHA:845
Dihydropyrimidine Dehydrogenase Deficiency
EEG abnormality, Inability to walk, Abnormal social behavior, Abnormal aggressive, impulsive or v... ORPHA:1675
Fg Syndrome Type 1
High palate, Anal atresia, Hydrocephalus, Malrotation of colon, Gastroesophageal reflux, Constipa... ORPHA:93932
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Nonprogressive cerebellar ataxia, Abnormal cortical ... ORPHA:314647
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Luscan-Lumish Syndrome
Anxiety, Shyness, Aggressive behavior OMIM:616831
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Abnormal nonverbal communicative behavior, Decreased nerve conduction velocity, ... ORPHA:485421
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Low frustration tolerance OMIM:619293
Sandhoff Disease
Macroglossia, Chronic diarrhea, Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
High palate, Exaggerated startle response, Cessation of head growth, Cognitive impairment, Dyspha... OMIM:617527
Asparagine Synthetase Deficiency
Progressive microcephaly, Microcephaly, Exaggerated startle response OMIM:615574
White-Sutton Syndrome
Overfriendliness, Self-injurious behavior, Anxiety, Aggressive behavior, Waddling gait, Irritability OMIM:616364
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Microcephaly, Exaggerated startle response OMIM:617301
X-Linked Intellectual Disability, Cilliers Type
Shyness ORPHA:163971
49,Xxxxy Syndrome
Overfriendliness, Shyness, Irritability, Low frustration tolerance ORPHA:96264
Trichotillomania
Hair-pulling OMIM:613229
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Gait ataxia OMIM:616579
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Impaired social interactions, Sk... ORPHA:177907
Choreoacanthocytosis
Apathy, Head-banging, Self-injurious behavior, Irritability, Loss of ambulation, Bradykinesia, De... ORPHA:2388
Plaa-Associated Neurodevelopmental Disorder
High palate, Exaggerated startle response, Impaired oropharyngeal swallow response, Microcephaly,... ORPHA:521426
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Exaggerated startle response, Holoprosencephaly, Encephalocele OMIM:253800
1P21.3 Microdeletion Syndrome
Aggressive behavior, Self-injurious behavior, Shyness, Self-mutilation ORPHA:293948
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, EEG abnormality, Abnormal social behavior, EEG with focal epileptiform discharg... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, EEG abnormality, Abnormal social behavior, EEG with focal epileptiform discharg... ORPHA:363958
Mend Syndrome
Aggressive behavior, Abnormal auditory evoked potentials, Abnormal social behavior ORPHA:401973
Tuberous Sclerosis Complex
Self-injurious behavior, Impulsivity, Abnormal social behavior, Depression, Anxiety, Aggressive b... ORPHA:805
Koolen-De Vries Syndrome
Overfriendliness ORPHA:96169
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hypsarrhythmia ORPHA:447997
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Macroglossia ORPHA:79255
Trichothiodystrophy
Impaired social reciprocity, Gait ataxia ORPHA:33364
Van Esch-O'Driscoll Syndrome
Impulsivity, Poor eye contact, Shyness OMIM:301030
Williams Syndrome
Overfriendliness, Abnormal gastric mucosa morphology, Malabsorption, Gastroesophageal reflux, Con... ORPHA:904
Orofaciodigital Syndrome V
Overfriendliness OMIM:174300
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ataxia, Anxiety, Shyness, Aggressive behavior ORPHA:466791
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Constipation, Exaggerated startle response, Gastroesophageal reflux, Dysphagia, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Dysphagia, Microcephaly, Exaggerated startle response, High palate OMIM:619522
Turner Syndrome Due To Structural X Chromosome Anomalies
Depression, Delayed social development, Abnormal nonverbal communicative behavior, Anxiety ORPHA:99413
Turner Syndrome
Depression, Delayed social development, Abnormal nonverbal communicative behavior, Anxiety ORPHA:881
Mosaic Monosomy X
Depression, Delayed social development, Abnormal nonverbal communicative behavior, Anxiety ORPHA:99228
Monosomy X
Depression, Delayed social development, Abnormal nonverbal communicative behavior, Anxiety ORPHA:99226
Monosomy 22Q13.3
Hair-pulling ORPHA:48652

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
Lymph node - 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
Spleen - MPATH pathological entity term lymphoid hyperplasia Chd8em1(IMPC)Mbp HET Early adult
Spleen - MPATH pathological process term 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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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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