Symbol Name ID |
Chd7
chromodomain helicase DNA binding protein 7 MGI:2444748 |
* | 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 | ||||||||||
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 | |||||||||||||||||||
Chd7Gt(S20-7E1)Sor/Chd7Gt(S20-7E1)Sor | ||||||||||||||||||||
Chd7Gt(RRR136)Byg/Chd7+ | ||||||||||||||||||||
Chd7Gt(S20-7E1)Sor/Chd7+ | * | |||||||||||||||||||
Chd7Whi/Chd7+ | ||||||||||||||||||||
Chd7tm2c(EUCOMM)Wtsi/Chd7tm2c(EUCOMM)Wtsi Tg(Gdf9-icre)5092Coo/0 (conditional) |
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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last database update 08/21/2024 MGI 6.24 |
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