Symbol Name ID |
Nr5a1
nuclear receptor subfamily 5, group A, member 1 MGI:1346833 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Premature birth |
Clitoral hypertrophy |
Exaggerated rugosity of the labia majora |
Fused labia majora |
Hypospadias |
Penoscrotal hypospadias |
Micropenis |
Cryptorchidism |
Retractile testis |
Ambiguous genitalia |
Ovotestis |
Hypoplasia of the uterus |
Gonadal dysgenesis |
Sex reversal |
Premature ovarian insufficiency |
Primary amenorrhea |
Secondary amenorrhea |
Azoospermia |
Oligozoospermia |
Cryptozoospermia |
Disease(s) Associated with NR5A1 | ||||||||||||||||||||
46,XX sex reversal 4 | ||||||||||||||||||||
46,XY sex reversal 3 | ||||||||||||||||||||
primary ovarian insufficiency 7 | ||||||||||||||||||||
spermatogenic failure 8 | ||||||||||||||||||||
Zellweger syndrome |
Mouse Phenotypes | reproductive system phenotype |
ovary hemorrhage |
oligozoospermia |
abnormal spermatid morphology |
decreased male germ cell number |
decreased granulosa cell proliferation |
abnormal decidualization |
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 |
uterus cyst |
uterus inflammation |
abnormal reproductive system morphology |
abnormal female reproductive system morphology |
abnormal uterus morphology |
abnormal endometrium morphology |
thin myometrium |
enlarged uterine horn |
decreased uterus weight |
uterus hypoplasia |
abnormal spermatogenesis |
arrest of spermatogenesis |
abnormal male reproductive system morphology |
external male genitalia hypoplasia |
internal male genitalia hypoplasia |
abnormal primary sex determination |
small gonad |
abnormal secondary sex determination |
delayed vaginal opening |
absent sexual maturation |
secondary sex reversal |
abnormal ovulation |
decreased superovulation rate |
anovulation |
abnormal estrous cycle |
short estrus |
absent estrous cycle |
prolonged estrous cycle |
female infertility |
infertility |
male infertility |
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Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr5a1em1Kemi/Nr5a1em1Kemi | * | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr5a1tm1.1Hain/Nr5a1tm1.1Hain | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr5a1tm1Enl/Nr5a1tm1Enl | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr5a1tm1Jmi/Nr5a1tm1Jmi | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr5a1tm1Klp/Nr5a1tm1Klp | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr5a1tm2.1Klp/Nr5a1tm2.1Klp | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr5a1tm3Klp/Nr5a1tm3Klp | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr5a1em1Kemi/Nr5a1+ | * | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr5a1tm1Klp/Nr5a1tm2Klp | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nr5a1tm2Klp/Nr5a1tm2Klp Tg(Cga-cre)3Sac/0 (conditional) |
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Amhr2tm3(cre)Bhr/Amhr2+ Nr5a1tm1Klp/Nr5a1tm2Klp (conditional) |
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Gt(ROSA)26Sortm2(CAG-Nr5a1)Fjd/Gt(ROSA)26Sor+ Pgrtm2(cre)Lyd/Pgr+ (conditional) |
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Nr5a1tm2Klp/Nr5a1tm2.1Klp Tg(Cga-cre)3Sac/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 06/12/2024 MGI 6.13 |
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