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Gene: Chd8 MGI:1915022

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Gene Summary

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

Order Alleles

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 1.01×10-06
increased lymphocyte cell number Chd8em1(IMPC)Mbp HET   Early adult 7.88×10-05
impaired glucose tolerance Chd8em1(IMPC)Mbp HET   Early adult 4.05×10-05

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.

Gross Morphology Embryo E9.5

Images

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 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
Attention deficit hyperactivity disorder, Microcephaly, Polyphagia, Aggressive behavior ORPHA:261229
Intellectual Developmental Disorder With Autism And Macrocephaly
Pica, Constipation, Recurrent hand flapping 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
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608636
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity, Pachygyria OMIM:606053
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 64
Microcephaly, Aggressive behavior, Reduced social reciprocity OMIM:618103
Autism
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:607373
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608631
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Inability to walk, Reduced social reciprocity, EEG abnormality, Motor st... OMIM:617820
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Microcephaly, Aggressive behavior, Delirium ORPHA:208441
Pandas
Depression, Abnormal fear-induced behavior, Encopresis, Obsessive-compulsive trait, Emotional lab... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Postural tremor, Reduced social reciprocity, Torticollis OMIM:611092
Hsd10 Disease
Short attention span, Tremor, Microcephaly, Gastrointestinal dysmotility, Dysphagia, Abnormal soc... ORPHA:391417
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Young-Onset Parkinson Disease
Diarrhea, Depression, Gastroparesis, Frontal lobe dementia, Restless legs, Short attention span, ... ORPHA:2828
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment, Exaggerated startle... ORPHA:309246
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Abnormal fear-induced behavior, Tremor, Irritability, Aggressive behavior, Hypera... ORPHA:3077
Acquired Partial Lipodystrophy
Insulin resistance, Lymphocytosis ORPHA:79087
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
11Q22.2Q22.3 Microdeletion Syndrome
High, narrow palate, Short attention span, Attention deficit hyperactivity disorder, Compulsive b... ORPHA:444002
Atypical Rett Syndrome
Restrictive behavior, Inability to walk, Bruxism, Inappropriate laughter, Gait ataxia, Reduced so... ORPHA:3095
Foxg1 Syndrome
Difficulty walking, Bruxism, Inability to walk, Reduced social reciprocity, Stereotypical hand wr... ORPHA:561854
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Action tremor, Tremor, Reduced social reciprocity, Aggressive behavior, Dystonia, Dys... OMIM:619738
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Abnormal emotion, EEG with polys... ORPHA:1942
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Depression, Abnormal fear-induced behavior, Increased fecal coproporphyrin 3, Confusion... ORPHA:100924
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Diarrhea, Gastroesophageal reflux, Oculogyric crisis, Limb dystonia, Emotional lab... OMIM:608643
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Reduced social reciprocity, Ataxia ORPHA:137831
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608049
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Limb ataxia, Gait ataxia, Dysmetria, Reduced social reciprocity, Aggressive behavior,... OMIM:615157
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Gastroesophageal reflux, Depression, Recurrent... ORPHA:449291
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec... ORPHA:544254
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Disinhibition, Dementia, Semantic dementia, Abnormal social behavio... ORPHA:1020
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, EEG ab... OMIM:610042
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Hyperekplexia 2
Hiatus hernia, Gastroesophageal reflux, Exaggerated startle response OMIM:614619
Metachromatic Leukodystrophy, Adult Form
Depression, Memory impairment, Progressive psychomotor deterioration, Short attention span, Emoti... ORPHA:309271
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Inability to walk, Reduced social reciprocity, Attention deficit hyperactivity ... OMIM:617854
Leukodystrophy, Hypomyelinating, 13
Secondary microcephaly, Vomiting, Irritability, Exaggerated startle response OMIM:616881
Hyperekplexia 3
Hiatus hernia, Gastroesophageal reflux, Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Gastroesophageal reflux, Exaggerated startle response OMIM:620114
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Decreased nerve conduction velocity, Gait ataxia, Emotional lability, Progressive g... ORPHA:309256
Childhood Absence Epilepsy
Depression, EEG with spike-wave complexes (2.5-3.5 Hz), Punding, Attention deficit hyperactivity ... ORPHA:64280
Rett Syndrome, Congenital Variant
Bruxism, Reduced social reciprocity, Irritability, Tongue thrusting, EEG abnormality, Pachygyria,... OMIM:613454
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Secondary microcephaly, Tremor, Exaggerated startle response, High palate, Ag... OMIM:618056
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Microcephaly, Short attention span, Irritability, Exaggerated startle response OMIM:617864
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia ORPHA:514
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Reduced social reciprocity, Ataxia, Unsteady gait, Abnormali... OMIM:256600
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Short attention span, Emotional lability, Dystonia, Intent... ORPHA:309263
Fg Syndrome Type 1
Gastroesophageal reflux, Abnormal large intestine morphology, Malrotation of colon, Attention def... ORPHA:93932
48,Xxxy Syndrome
Gastroesophageal reflux, Tremor, Irritability, Attention deficit hyperactivity disorder, Constipa... ORPHA:96263
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis ORPHA:86843
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Developmental And Epileptic Encephalopathy 68
Microcephaly, Exaggerated startle response OMIM:618201
Tay-Sachs Disease
Mania, Depression, Memory impairment, Laryngeal dystonia, Short attention span, Tremor, Exaggerat... ORPHA:845
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced social reciprocity... OMIM:300912
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Difficulty walking, Iron deficiency anemia, Lymphoc... ORPHA:1667
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, Depression, EEG abnormality, Reduced social reciprocity OMIM:618798
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Microcephaly, High palate, Dystonia, Exaggerated startle response ORPHA:438216
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Aggressive behavior, Reduced social reciprocity OMIM:616083
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Alg11-Cdg
Gray matter heterotopia, EEG with burst suppression, Reduced social reciprocity, Ataxia ORPHA:280071
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Polymicrogyria, Inability to walk, Type II lissencephaly, Emotional lability, Reduced social reci... ORPHA:300570
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Choreoacanthocytosis
Self-injurious behavior, Phonic tics, Depression, Head-banging, Decreased amplitude of sensory ac... ORPHA:2388
Wagro Syndrome
Low frustration tolerance, Emotional lability, Reduced social reciprocity, Polyphagia, Aggressive... OMIM:612469
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cessation of head growth, Progressive microcephaly, Cognitive impairment, Exaggerated startle res... OMIM:617527
X-Linked Intellectual Disability, Van Esch Type
Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:163976
Asparagine Synthetase Deficiency
Gastroesophageal reflux, Tremor, Irritability, Microcephaly, Progressive microcephaly, Primary mi... OMIM:615574
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Exaggerated startle response OMIM:608800
Glycine Encephalopathy With Normal Serum Glycine
Microcephaly, Dysphagia, Exaggerated startle response OMIM:617301
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Developmental And Epileptic Encephalopathy 49
Microcephaly, Hyperactivity, Hydrocephalus, Exaggerated startle response OMIM:617281
Pontocerebellar Hypoplasia, Type 8
Gait ataxia, Dysphagia, Reduced social reciprocity OMIM:614961
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Exaggerated startle response OMIM:272750
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Dementia, Limb dystonia, ... ORPHA:646
Sandhoff Disease
Macroglossia, Chronic diarrhea, Progressive psychomotor deterioration, Exaggerated startle response OMIM:268800
Multiple Mitochondrial Dysfunctions Syndrome 7
Secondary microcephaly, Irritability, Impulsivity, Hyperactivity, Exaggerated startle response, D... OMIM:620423
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Irritability, EEG abnormality, Multifocal epileptiform discharges, Abnormal ag... ORPHA:1675
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis ORPHA:79456
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivit... OMIM:300352
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Reduced social... OMIM:156200
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Low frustration tolerance, Reduced social reciprocity, Aggressive behavior, H... OMIM:309520
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Hypsarrhythmia, Hyperactivity, Dysphagia, Motor stereotypy ORPHA:447997
Plaa-Associated Neurodevelopmental Disorder
Microcephaly, High palate, Dystonia, Impaired oropharyngeal swallow response, Exaggerated startle... ORPHA:521426
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Abnormal cortical gyration, Dysmetria, Aggressive behavior, Unsteady gait, Nonprogressive... ORPHA:314647
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... ORPHA:3261
Chromosome 15Q11.2 Deletion Syndrome
Reduced social reciprocity, Attention deficit hyperactivity disorder, Ataxia, Compulsive behavior... OMIM:615656
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Bifid uvula, Head-banging, Reduced social reciprocity, Skin-picking, Mi... ORPHA:177907
Phelan-Mcdermid Syndrome
Broad-based gait, Bruxism, Reduced social reciprocity, Aggressive behavior, Tongue thrusting, Uns... OMIM:606232
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Dysphagia, Reduced social reciprocity, Polymicrogyria OMIM:619775
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Reduced social reciprocity ORPHA:8
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Choreoathetosis, Reduced social recip... ORPHA:261197
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
Hydrocephalus, Holoprosencephaly, Encephalocele, Exaggerated startle response OMIM:253800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Gastroesophageal reflux, Abnormal fear-induced behavior, Secondary micro... ORPHA:353281
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Combined Oxidative Phosphorylation Deficiency 58
Microcephaly, Vomiting, Exaggerated startle response OMIM:620451
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Dysphagia, Irritability, Exaggerated startle response OMIM:618367
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Emotional lability, Hypsarrhythmia, Ataxia, Tics, Motor stereotypy, Depression,... OMIM:619475
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Dysmetria, Reduced social reciprocity, Aggressive behavior, Polyphagia, ... ORPHA:96121
Lead Poisoning
Attention deficit hyperactivity disorder, Depression, Reduced social reciprocity, Anorexia ORPHA:330015
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Emotional lability, Hair-pulling, P... OMIM:620330
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Impulsivity, Attention deficit hyperactivity disorder, Repet... ORPHA:805
Koolen-De Vries Syndrome Due To A Point Mutation
Inappropriate laughter, Overfriendliness, Attention deficit hyperactivity disorder, EEG abnormali... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Inappropriate laughter, Overfriendliness, Attention deficit hyperactivity disorder, EEG abnormali... ORPHA:363958
Mend Syndrome
Aggressive behavior, Abnormal auditory evoked potentials, Hyperactivity, Abnormal social behavior ORPHA:401973
Gm1 Gangliosidosis Type 1
Macroglossia, Exaggerated startle response ORPHA:79255
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Narrow palate, Gastroesophageal reflux, Abnormal fear-induced behavior, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Narrow palate, Gastroesophageal reflux, Abnormal fear-induced behavior, ... ORPHA:353277
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Reduced social reciprocity, Polyphagia, Atte... ORPHA:404448
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Ataxia, Anemia, Thrombocytopenia ORPHA:50918
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia OMIM:617718
Helsmoortel-Van Der Aa Syndrome
Bruxism, Reduced social reciprocity, Irritability, Polyphagia, Attention deficit hyperactivity di... OMIM:615873
Trichothiodystrophy
Gait ataxia, Reduced social reciprocity ORPHA:33364
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Emotional lability, Reduced social reciprocity, ... ORPHA:293987
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Williams Syndrome
Macroglossia, Peptic ulcer, Gastroesophageal reflux, Depression, Colonic diverticula, Abnormal ga... ORPHA:904
Monosomy 22Q13.3
Bruxism, Hyperactivity, Hair-pulling ORPHA:48652
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Microcephaly, Attention deficit hyperactivity disorder, Motor stereotypy, Exaggerated startle res... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Gastroesophageal reflux, Stereotypical hand wringing, Constipation, Exaggerated startle response,... ORPHA:438213
Chromosome 1P36 Deletion Syndrome, Distal
Polymicrogyria, Oppositional defiant disorder, Self-mutilation, Reduced social reciprocity, Aggre... OMIM:607872
Liver Disease, Severe Congenital
Leukopenia, Splenomegaly, Lymphocytosis, Hyperinsulinemic hypoglycemia, Thrombocytopenia, Anemia OMIM:619991
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Gait ataxia, Reduced social reciprocity ORPHA:457359
Mowat-Wilson Syndrome
Ataxia, Broad-based gait, Polymicrogyria, Inability to walk, Bruxism, EEG with spike-wave complex... ORPHA:2152
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Microcephaly, Polyphagia, Aggressive behavior ORPHA:261229
17Q11 Microdeletion Syndrome
Reduced social reciprocity ORPHA:97685
Intellectual Developmental Disorder With Autism And Macrocephaly
Pica, Constipation, Recurrent hand flapping 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
Lymph node - MPATH pathological entity term lymphoid 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

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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