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Symbol
Name
ID
Nr5a1
nuclear receptor subfamily 5, group A, member 1
MGI:1346833
Phenotype annotations related to reproductive system
*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
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)
Amhr2tm3(cre)Bhr/Amhr2+
Nr5a1tm1Klp/Nr5a1tm2Klp  (conditional)
Gt(ROSA)26Sortm2(CAG-Nr5a1)Fjd/Gt(ROSA)26Sor+
Pgrtm2(cre)Lyd/Pgr+  (conditional)
Nr5a1tm2Klp/Nr5a1tm2.1Klp
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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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory