Symbol
Name
ID

Nr5a1
nuclear receptor subfamily 5, group A, member 1
MGI:1346833

Phenotype annotations related to endocrine/exocrine glands

Darker colors indicate more annotations

Human Phenotypes	Elevated circulating follicle stimulating hormone level	Elevated circulating luteinizing hormone level	Primary adrenal insufficiency
Disease(s) Associated with NR5A1	Elevated circulating follicle stimulating hormone level	Elevated circulating luteinizing hormone level	Primary adrenal insufficiency
46,XY sex reversal 3
primary ovarian insufficiency 7
Zellweger syndrome

Mouse Phenotypes

ovary hemorrhage

retention of the adrenal gland x-zone

decreased granulosa cell proliferation

abnormal adrenal gland zona glomerulosa morphology

absent adrenal gland

small adrenal glands

abnormal pituitary gland morphology

decreased gonadotroph cell number

prostate gland hypoplasia

seminal vesicle hypoplasia

abnormal endometrial gland morphology

abnormal endometrial gland development

decreased endometrial gland number

enlarged endometrial glands

abnormal sex gland morphology

absent corpus luteum

absent mature ovarian follicles

abnormal ovarian follicle number

decreased primary ovarian follicle number

decreased primordial ovarian follicle number

decreased secondary ovarian follicle number

decreased tertiary ovarian follicle number

impaired ovarian folliculogenesis

ovarian follicular cyst

decreased ovary weight

small ovary

ovary hypoplasia

absent ovary

abnormal testis morphology

abnormal seminiferous tubule morphology

seminiferous tubule degeneration

abnormal testis development

abnormal testis cord formation

abnormal Leydig cell morphology

decreased Leydig cell number

increased Leydig cell number

decreased testis weight

small testis

testis hypoplasia

absent testes

cryptorchism

agonadal

abnormal ovary physiology

Availability

Mouse Genotype

Nr5a1^em1Kemi/Nr5a1^em1Kemi

Nr5a1^tm1.1Hain/Nr5a1^tm1.1Hain

Nr5a1^tm1Enl/Nr5a1^tm1Enl

Nr5a1^tm1Jmi/Nr5a1^tm1Jmi

Nr5a1^tm1Klp/Nr5a1^tm1Klp

Nr5a1^tm2.1Klp/Nr5a1^tm2.1Klp

Nr5a1^tm3Klp/Nr5a1^tm3Klp

Nr5a1^em1Kemi/Nr5a1⁺

Nr5a1^tm1.1Hain/Nr5a1⁺

Nr5a1^tm1Klp/Nr5a1^tm2Klp

Nr5a1^tm2Klp/Nr5a1^tm2Klp
Tg(Cga-cre)3Sac/0 (conditional)

Cyp11b2^{tm1.1(cre)Brlt}/Cyp11b2⁺
Nr5a1^tm2Klp/Nr5a1^tm2Klp (conditional)

Amhr2^tm3(cre)Bhr/Amhr2⁺
Nr5a1^tm1Klp/Nr5a1^tm2Klp (conditional)

Gt(ROSA)26Sor^{tm2(CAG-Nr5a1)Fjd}/Gt(ROSA)26Sor⁺
Pgr^tm2(cre)Lyd/Pgr⁺ (conditional)

Nr5a1^tm2Klp/Nr5a1^tm2.1Klp
Tg(Cga-cre)3Sac/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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