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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
impaired glucose tolerance Chd8em1(IMPC)Mbp HET   Early adult 8.05×10-05
embryonic lethality prior to organogenesis Chd8em1(IMPC)Mbp HOM   E9.5 0.00
decreased locomotor activity Chd8em1(IMPC)Mbp HET Early adult 2.60×10-07

Download data as:  TSV  XLS

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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 Dorso Ventral

60 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 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
Intellectual Developmental Disorder With Autism And Macrocephaly
Pronoun reversal, Echolalia, Delayed speech and language development, 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
Intellectual Developmental Disorder, Autosomal Recessive 54
Delayed speech and language development, Exaggerated startle response, Emotional lability OMIM:617028
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Impaired social interact... ORPHA:168782
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cog... ORPHA:309246
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Shyness, Suicidal ... ORPHA:96369
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Gastroesophageal reflux, Exaggerated startle response, Absent speech OMIM:620114
Aromatic L-Amino Acid Decarboxylase Deficiency
Gastroesophageal reflux, Exaggerated startle response, Blepharospasm, Diarrhea, Limb dystonia, To... OMIM:608643
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety ORPHA:3198
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Vomiting, Absent speech, Secondary microcephaly, Irritability OMIM:616881
Tay-Sachs Disease
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia OMIM:272800
Hyperekplexia 2
Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia OMIM:614619
Intellectual Developmental Disorder With Autism And Macrocephaly
Pronoun reversal, Echolalia, Delayed speech and language development, Constipation, Anxiety OMIM:615032
Stiff-Person Syndrome
Exaggerated startle response, Depression, Anxiety, Agoraphobia, Opisthotonus OMIM:184850
Hyperekplexia 3
Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia OMIM:614618
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, High palate, Delayed speech and language development, Absent speech... OMIM:618056
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Irritability, Microcephaly, Absent speech OMIM:617864
Tay-Sachs Disease
Exaggerated startle response, Memory impairment, Absent speech, Tremor, Speech articulation diffi... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Apathy, Dystonia, Dementia OMIM:272750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, High palate, Microcephaly, Anxiety, Dystonia ORPHA:438216
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Microcephaly OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Microcephaly OMIM:618367
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Absent speech OMIM:618598
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Absent speech, Ataxia OMIM:616393
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Exaggerated startle response OMIM:608800
Sandhoff Disease
Exaggerated startle response, Macroglossia, Progressive psychomotor deterioration, Chronic diarrhea OMIM:268800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, High palate, Cognitive impairment, Cessation of head growth, Progre... OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, High palate, Impaired oropharyngeal swallow response, Delayed speec... ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Microcephaly, Dysphagia OMIM:617301
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Asparagine Synthetase Deficiency
Exaggerated startle response, Progressive microcephaly, Microcephaly OMIM:615574
Trichotillomania
Hair-pulling OMIM:613229
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Choreoacanthocytosis
Hair-pulling, Aggressive behavior, Head-banging, Self-injurious behavior, Falls, Decreased amplit... ORPHA:2388
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Hydrocephalus, Encephalocele, Exaggerated startle response OMIM:253800
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypsarrhythmia, Hair-pulling, Delayed speech and language development, Irritability ORPHA:447997
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Macroglossia ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Gastroesophageal reflux, Exaggerated startle response, Absent speech, Constipation, Receptive lan... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, High palate, Delayed speech and language development, Microcephaly,... OMIM:619522
Monosomy 22Q13.3
Delayed speech and language development, 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
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 entity term lymphoid hyperplasia Chd8em1(IMPC)Mbp HET Early adult
Lymph node - 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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