Symbol
Name
ID

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

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Very long chain fatty acid accumulation	Elevated circulating follicle stimulating hormone level	Elevated circulating luteinizing hormone level	Epiphyseal stippling
Disease(s) Associated with NR5A1	Very long chain fatty acid accumulation	Elevated circulating follicle stimulating hormone level	Elevated circulating luteinizing hormone level	Epiphyseal stippling
46,XY sex reversal 3
primary ovarian insufficiency 7
Zellweger syndrome

Mouse Phenotypes

decreased circulating testosterone level

decreased circulating estradiol level

decreased circulating follicle stimulating hormone level

decreased circulating luteinizing hormone level

increased circulating follicle stimulating hormone level

abnormal aldosterone level

abnormal corticosterone level

decreased follicle stimulating hormone level

decreased luteinizing hormone level

abnormal progesterone level

abnormal testosterone level

Availability

Mouse Genotype

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

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

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