chd1 Phenotypes

Summary

Expression

Phenotypes

XB-GENEPAGE-960476

Gene Symbol: chd1 Gene Name: chromodomain helicase DNA binding protein 1

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
decreased width of the mouth (7 sources), abnormal craniofacial region morphology (6 sources), decreased size of the intercanthal region (6 sources), abnormal alimentary system morphology (3 sources), abnormal heart morphology (3 sources), abnormal tail morphology (3 sources), abnormal development of cranial neural crest (1 source), abnormal eye morphology (1 source), absent ethmoid bone (1 source), decreased size of the Meckel's cartilage (1 source), decreased size of the basihyal (1 source), decreased size of the ceratohyal (1 source), increased apoptosis in eye (1 source), increased apoptosis in head (1 source), increased apoptosis in tail (1 source)

Anatomical Phenotypes

Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.

decreased width of the mouth (7 sources), abnormal craniofacial region morphology (6 sources), decreased size of the intercanthal region (6 sources), abnormal alimentary system morphology (3 sources), abnormal heart morphology (3 sources), abnormal tail morphology (3 sources), abnormal development of cranial neural crest (1 source), abnormal eye morphology (1 source), absent ethmoid bone (1 source), decreased size of the Meckel's cartilage (1 source), decreased size of the basihyal (1 source), decreased size of the ceratohyal (1 source), increased apoptosis in eye (1 source), increased apoptosis in head (1 source), increased apoptosis in tail (1 source)

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Manual annotations: chd1 manipulated (5 sources), chd1 assayed (4 sources)

Diseases Diseases from the human disease ontology (DO) manually associated with phenotypes from disease models. Sources are grouped by anatomical (AP) and expression (EP) phenotypes.
orofacial cleft (10AP sources, 2 EP sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + chd1 MO (4 sources), Xla Wt + chd1 MO (2 sources), Xla Wt + chd1 + animal cap explant (1 source), Xla Wt + chd1 + fermt2 MO + animal cap explant (1 source), Xla Wt + chd1 CRISPR (1 source), Xla Wt + chd1 MO (1 source), Xla Wt + chd1 MO (1 source), Xla Wt + chd1 MO + BMS453 (1 source), Xla Wt + chd1 MO + mouth transplant (1 source), Xla Wt + wnt3a + chd1 + animal cap explant (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (21 sources): Abnormal fingertip morphology, Allergy, Almond-shaped palpebral fissure, Autistic behavior, Broad eyebrow, Dermal translucency, Downslanted palpebral fissures, Failure to thrive, Frontal bossing, Generalized hypotonia, Global developmental delay, Immunodeficiency, Intellectual disability, Macrocephaly, Midface retrusion, Motor stereotypy, Periorbital fullness, Pointed chin, Seizure, Speech apraxia, Thick eyebrow [+]
Mouse (25 sources): abnormal craniofacial morphology, abnormal developmental patterning, abnormal embryo development, abnormal embryo size, abnormal maxilla morphology, abnormal mean corpuscular hemoglobin, abnormal mean corpuscular hemoglobin concentration, abnormal mesoderm development, abnormal red blood cell distribution width, abnormal rostral-caudal axis patterning, absent anterior visceral endoderm, absent extraembryonic ectoderm, decreased embryo size, decreased mean corpuscular hemoglobin, decreased mean corpuscular hemoglobin concentration, decreased red blood cell distribution width, embryonic lethality prior to organogenesis, embryonic lethality prior to tooth bud stage, embryonic lethality, complete penetrance, failure to gastrulate, increased embryonic epiblast cell apoptosis, increased erythrocyte cell number, no abnormal phenotype detected, preweaning lethality, complete penetrance, small embryonic epiblast [+]
View all ortholog results at Monarch