Symbol
Name
ID

Chd7
chromodomain helicase DNA binding protein 7
MGI:2444748

Phenotype annotations related to endocrine/exocrine glands

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Aplasia/Hypoplasia of the thymus	Decreased response to growth hormone stimulation test	Abnormality of the adrenal glands	Anterior hypopituitarism	Gonadotropin deficiency	Parathyroid hypoplasia	Hypoparathyroidism	Hypothyroidism	Delayed puberty	Hypogonadotropic hypogonadism
Disease(s) Associated with CHD7	Aplasia/Hypoplasia of the thymus	Decreased response to growth hormone stimulation test	Abnormality of the adrenal glands	Anterior hypopituitarism	Gonadotropin deficiency	Parathyroid hypoplasia	Hypoparathyroidism	Hypothyroidism	Delayed puberty	Hypogonadotropic hypogonadism
CHARGE syndrome
hypogonadotropic hypogonadism 5 with or without anosmia

Mouse Phenotypes

increased granulosa cell apoptosis

endocrine/exocrine gland phenotype

Rathke's pouch hypoplasia

abnormal neurohypophysis median eminence morphology

small thymus

thymus hypoplasia

ectopic thymus

decreased primary ovarian follicle number

decreased primordial ovarian follicle number

decreased secondary ovarian follicle number

decreased tertiary ovarian follicle number

increased atretic ovarian follicle number

impaired ovarian folliculogenesis

decreased ovary weight

small ovary

abnormal seminiferous tubule morphology

decreased testis weight

testis hypoplasia

abnormal pituitary gland physiology

Availability

Mouse Genotype

Chd7^{Gt(S20-7E1)Sor}/Chd7^{Gt(S20-7E1)Sor}

Chd7^{Gt(RRR136)Byg}/Chd7⁺

Chd7^{Gt(S20-7E1)Sor}/Chd7⁺

Chd7^Whi/Chd7⁺

Chd7^{tm2c(EUCOMM)Wtsi}/Chd7^{tm2c(EUCOMM)Wtsi}
Tg(Gdf9-icre)5092Coo/0 (conditional)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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