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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
impaired glucose tolerance Chd8em1(IMPC)Mbp HET   Early adult 4.05×10-05
embryonic lethality prior to organogenesis Chd8em1(IMPC)Mbp HOM   E9.5 0.00
decreased locomotor activity Chd8em1(IMPC)Mbp HET Early adult 9.86×10-07
preweaning lethality, complete penetrance Chd8em1(IMPC)Mbp HOM   Early adult 0.00
increased lymphocyte cell number Chd8em1(IMPC)Mbp HET   Early adult 7.88×10-05

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

80 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 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
Attention deficit hyperactivity disorder, Microcephaly, Polyphagia, Aggressive behavior ORPHA:261229
Intellectual Developmental Disorder With Autism And Macrocephaly
Constipation, Recurrent hand flapping, Pica 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, Compulsive behaviors, Reduced social reciprocity OMIM:618830
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so... OMIM:608636
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity, Pachygyria, Motor stereotypy OMIM:606053
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 64
Microcephaly, Reduced social reciprocity, Aggressive behavior OMIM:618103
Autism
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Impair... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Impair... OMIM:607373
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Childhood Disintegrative Disorder
Abnormal emotion, Motor deterioration, Bowel incontinence, Progressive language deterioration, Re... ORPHA:168782
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Reduced social reciprocity, Motor stereotypy, Self-injurious behavior, EEG abn... OMIM:617820
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Microcephaly, Delirium, Aggressive behavior ORPHA:208441
Pandas
Anorexia, Irritability, Encopresis, Obsessive-compulsive trait, Abnormal fear-induced behavior, D... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Kinetic tremor, Reduced social reciprocity OMIM:611092
Hsd10 Disease
Abnormal social behavior, Tremor, Short attention span, Microcephaly, Dysphagia, Gastrointestinal... ORPHA:391417
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Young-Onset Parkinson Disease
Agitation, Gastroparesis, Diarrhea, Depression, Tremor, Short attention span, Impulsivity, Fronta... ORPHA:2828
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive i... ORPHA:309246
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Resting tremor, Hyperactivity, Tremor, Ab... ORPHA:3077
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance 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, Abnormal social behavior, Compulsive behaviors, Short attention span, Attent... ORPHA:444002
Atypical Rett Syndrome
Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Gait disturbance, Gait atax... ORPHA:3095
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Tremor, Action tremor, Dystonia, Dysphagia, Reduced social reciprocity, Aggressive be... OMIM:619738
Foxg1 Syndrome
Difficulty walking, Inability to walk, Bruxism, Stereotypical hand wringing, Reduced social recip... ORPHA:561854
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Reduced social reciprocity, Aggressive behavior ORPHA:329249
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Myoclonic-Astatic Epilepsy
Abnormal emotion, EEG with polyspike wave complexes, Interictal epileptiform activity, Hyperactiv... ORPHA:1942
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Episodic vomiting, Diarrhea, Depression, Confusion, Co... ORPHA:100924
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Gastroesophageal reflux, Diarrhea, Tongue thrusting... OMIM:608643
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Ataxia, Reduced social reciprocity ORPHA:137831
Autism, Susceptibility To, 3
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Impair... OMIM:608049
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Limb ataxia, Depression, Dysdiadochokinesis, Compulsive behaviors, Gait apraxia, Ga... OMIM:615157
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Irritability, Abnormal temper tantrums, Gastroesophageal reflux, Hyperactivity, Depression, Recur... ORPHA:449291
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Recurrent hand flapping, Gait disturbance, Ataxia, Reduced social rec... ORPHA:544254
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... OMIM:308240
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Disinhibiti... ORPHA:1020
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactiv... OMIM:610042
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Hyperekplexia 2
Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia OMIM:614619
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Depression, E... ORPHA:309271
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Inability to walk, Broad-based gait, Impulsivity, Ataxia, Reduced social reciprocit... OMIM:617854
Leukodystrophy, Hypomyelinating, 13
Vomiting, Irritability, Exaggerated startle response, Secondary microcephaly OMIM:616881
Hyperekplexia 3
Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia OMIM:614618
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Gastroesophageal reflux, Depression, Exaggerated startle response OMIM:620114
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Decreased nerve conduction velocity, Abnormal social behavior, Emotional lability, ... ORPHA:309256
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Punding, Attention deficit hyperactivity disorder, EEG with... ORPHA:64280
Rett Syndrome, Congenital Variant
Irritability, Tongue thrusting, Athetosis, Reduced social reciprocity, Simplified gyral pattern, ... OMIM:613454
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Secondary microcephaly, Agitation, Truncal titubation, Tremor, High palate, Exaggerated startle r... OMIM:618056
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Microcephaly, Irritability, Short attention span, Exaggerated startle response OMIM:617864
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Unsteady gait, Atax... OMIM:256600
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Abnormal social behavior, Emotional lability, Short attent... ORPHA:309263
Fg Syndrome Type 1
Abnormal social behavior, Gastroesophageal reflux, Hydrocephalus, High palate, Compulsive behavio... ORPHA:93932
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Gastroesophageal reflux, Tremor, Constipation, Cleft pala... ORPHA:96263
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia 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
Memory impairment, Depression, Tremor, Short attention span, Exaggerated startle response, Dyston... ORPHA:845
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Stereotypica... OMIM:300912
Wolcott-Rallison Syndrome
Difficulty walking, Neutropenia, Iron deficiency anemia, Lymphocytosis, Neonatal insulin-dependen... ORPHA:1667
Beck-Fahrner Syndrome
Depression, EEG abnormality, Reduced social reciprocity, Attention deficit hyperactivity disorder OMIM:618798
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response OMIM:184850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Short attention span, Exaggerated startle response, Microcephaly, Dystonia ORPHA:438216
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Reduced social reciprocity, Aggressive behavior OMIM:616083
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Alg11-Cdg
Ataxia, Reduced social reciprocity, Gray matter heterotopia, EEG with burst suppression ORPHA:280071
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Delayed early-childhood social milestone development, Polymicrogyria, Type II ... ORPHA:300570
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Choreoacanthocytosis
Bradykinesia, Irritability, Self-injurious behavior, Socially inappropriate behavior, Hair-pullin... ORPHA:2388
Wagro Syndrome
Agitation, Emotional lability, Low frustration tolerance, Compulsive behaviors, Polyphagia, Reduc... OMIM:612469
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Progressive microcephaly, High palate, Cessation of head growth, Exaggerated startle response, Co... OMIM:617527
X-Linked Intellectual Disability, Van Esch Type
Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:163976
Asparagine Synthetase Deficiency
Irritability, Gastroesophageal reflux, Progressive microcephaly, Tremor, Exaggerated startle resp... 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
Hair-pulling, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Hyperactivity, Exaggerated startle response, Microcephaly OMIM:617281
Pontocerebellar Hypoplasia, Type 8
Reduced social reciprocity, Dysphagia, Gait ataxia OMIM:614961
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Dementia OMIM:272750
Niemann-Pick Disease Type C
Abnormal social behavior, Axial dystonia, Depression, Low frustration tolerance, Tremor, Compulsi... ORPHA:646
Sandhoff Disease
Chronic diarrhea, Macroglossia, Progressive psychomotor deterioration, Exaggerated startle response OMIM:268800
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Inability to walk, Abnormal social behavior, Abnormal aggressive, impulsive or viol... ORPHA:1675
Multiple Mitochondrial Dysfunctions Syndrome 7
Secondary microcephaly, Irritability, Agitation, Hyperactivity, Exaggerated startle response, Imp... OMIM:620423
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Gait disturbance, Reduced social reciprocity, Motor stereotypy, Attention defic... OMIM:300352
Intellectual Developmental Disorder, Autosomal Dominant 1
Recurrent hand flapping, Polyphagia, Inappropriate laughter, Ataxia, Reduced social reciprocity, ... OMIM:156200
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Emotional lability, Compulsive behaviors, Reduced socia... 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
High palate, Exaggerated startle response, Microcephaly, Impaired oropharyngeal swallow response,... ORPHA:521426
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Abnormal social behavior, Nonprogressive cerebellar ataxia, Ataxia, U... ORPHA:314647
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:3261
Chromosome 15Q11.2 Deletion Syndrome
Compulsive behaviors, Ataxia, Reduced social reciprocity, Motor stereotypy, Attention deficit hyp... OMIM:615656
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Abnormal social behavior, Head-banging, High palate, Compulsive behavio... ORPHA:177907
Phelan-Mcdermid Syndrome
Tongue thrusting, Broad-based gait, Unsteady gait, Reduced social reciprocity, Motor stereotypy, ... OMIM:606232
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Reduced social reciprocity, Gray matter heterotopia, Dysphagia OMIM:619775
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Reduced social reciprocity, Impulsivity ORPHA:8
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Choreoathetosis, Reduced social reciprocity, Motor ster... ORPHA:261197
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
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
Narrow palate, Secondary microcephaly, Aggressive behavior, Abnormal fear-induced behavior, Gastr... 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
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Decreased proportion of ... OMIM:301074
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Combined Oxidative Phosphorylation Deficiency 58
Vomiting, Microcephaly, Exaggerated startle response OMIM:620451
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Impulsivity, Ataxia, EEG abnormality, Bruxism, Aggressive behavior, Tip-toe gait, ... OMIM:619475
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Irritability, Dysphagia, Exaggerated startle response OMIM:618367
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
7Q11.23 Microduplication Syndrome
Hyperactivity, Polyphagia, Unsteady gait, Reduced social reciprocity, Simplified gyral pattern, C... ORPHA:96121
Lead Poisoning
Anorexia, Attention deficit hyperactivity disorder, Reduced social reciprocity, Depression ORPHA:330015
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Broad-based gait, Emotional lability, Polyphagia, Fixated interests, M... OMIM:620330
Tuberous Sclerosis Complex
Abnormal social behavior, Hyperactivity, Depression, Impulsivity, Noncommunicating hydrocephalus,... ORPHA:805
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Interictal epileptiform activity, EEG with focal epileptiform discharge... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Interictal epileptiform activity, EEG with focal epileptiform discharge... ORPHA:363958
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Abnormal social behavior, Aggressive behavior ORPHA:401973
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Gm1 Gangliosidosis Type 1
Macroglossia, Exaggerated startle response ORPHA:79255
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Secondary microcephaly, Aggressive behavior, Abnormal fear-induced behavior, Gastr... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Secondary microcephaly, Aggressive behavior, Abnormal fear-induced behavior, Gastr... ORPHA:353277
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia, Reduced so... ORPHA:404448
Kikuchi-Fujimoto Disease
Anemia, Lymphocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Ataxia, Neutropenia ORPHA:50918
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Helsmoortel-Van Der Aa Syndrome
Irritability, Hyperactivity, Polyphagia, Compulsive behaviors, Reduced social reciprocity, Dyspha... OMIM:615873
Trichothiodystrophy
Reduced social reciprocity, Gait ataxia ORPHA:33364
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Depression, Emotional lability, Compulsive behaviors, Polyphagia, Reduced social reci... ORPHA:293987
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Williams Syndrome
Peptic ulcer, Rectal prolapse, Abnormal social behavior, Gastroesophageal reflux, Spina bifida oc... ORPHA:904
Monosomy 22Q13.3
Hyperactivity, Bruxism, Hair-pulling ORPHA:48652
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
High palate, Exaggerated startle response, Microcephaly, Dysphagia, Motor stereotypy, Attention d... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Gastroesophageal reflux, Exaggerated startle response, Stereotypical hand wringing, Constipation,... ORPHA:438213
Chromosome 1P36 Deletion Syndrome, Distal
Hypsarrhythmia, Polymicrogyria, Polyphagia, Oppositional defiant disorder, Reduced social recipro... OMIM:607872
Liver Disease, Severe Congenital
Anemia, Lymphocytosis, Thrombocytopenia, Leukopenia, Splenomegaly, Hyperinsulinemic hypoglycemia OMIM:619991
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Reduced social reciprocity, Gait ataxia ORPHA:457359
Mowat-Wilson Syndrome
EEG with spike-wave complexes, Inability to walk, Broad-based gait, Bruxism, Polymicrogyria, Atax... 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
Constipation, Recurrent hand flapping, Pica 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
Lymph node - MPATH pathological entity term lymphoid hyperplasia Chd8em1(IMPC)Mbp HET Early adult
Spleen - MPATH pathological process term 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

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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