Phenotypes Associated with This Genotype

Genotype
MGI:2180104

• Allelic Composition: Nr5a1^tm2Klp/Nr5a1^tm2.1Klp; Tg(Cga-cre)3Sac/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

endocrine/exocrine glands

prostate gland hypoplasia ( J:66593 )

♂ • treatment with exogenous gonadotropins stimulated enlargement of the hypoplastic prostate glands

seminal vesicle hypoplasia ( J:66593 )

♂ • treatment with exogenous gonadotropins stimulated enlargement of the hypoplastic seminal vesicles

absent corpus luteum ( J:66593 )

♀

absent mature ovarian follicles ( J:66593 )

♀ • although ovarian follicles develop through the primary, secondary and antral stages, no large preovulatory follicles or corpora lutea are observed

♀ • treatment with exogenous gonadotropins (PMSG) stimulated maturation of ovarian follicles to the preovulatory stage and induced ovulation, as indicated by the presence of corpora lutea

ovary hypoplasia ( J:66593 )

♀ • severe

abnormal Leydig cell morphology ( J:66593 )

♂ • mutant Leydig cells display none of the histological features typical of steroidogenic cells

decreased Leydig cell number ( J:66593 )

♂ • interstitial Leydig cells are severely reduced in number

♂ • treatment with exogenous gonadotropins stimulated Leydig cell hypertrophy and induced luminal opening of the seminiferous tubules

testis hypoplasia ( J:66593 )

♂ • severe

cryptorchism ( J:66593 )

♂ • mutant males have cryptorchid testes

reproductive system

decreased male germ cell number ( J:66593 )

♂ • male germ cells are significantly reduced in number

abnormal female reproductive system morphology ( J:66593 )

♀

absent corpus luteum ( J:66593 )

♀

absent mature ovarian follicles ( J:66593 )

♀ • although ovarian follicles develop through the primary, secondary and antral stages, no large preovulatory follicles or corpora lutea are observed

♀ • treatment with exogenous gonadotropins (PMSG) stimulated maturation of ovarian follicles to the preovulatory stage and induced ovulation, as indicated by the presence of corpora lutea

uterus hypoplasia ( J:66593 )

♀ • treatment with exogenous gonadotropins (PMSG) stimulated a significant increase in uterine size and development of the endometrial glands

abnormal spermatogenesis ( J:66593 )

♂ • mutant males fail to progress through the normal stages of spermatogenesis: occasional pachytene spermatocytes are observed, but mature spermatids are absent

♂ • treatment with exogenous gonadotropins (PMSG) stimulated gonadal steroidogenesis, inducing maturation of spermatogonial precursors to the round spermatid stage

abnormal spermatid morphology ( J:66593 )

♂ • no mature spermatids are observed

abnormal male reproductive system morphology ( J:66593 )

♂ • mutant males show hypoplastic external and internal genitalia

prostate gland hypoplasia ( J:66593 )

♂ • treatment with exogenous gonadotropins stimulated enlargement of the hypoplastic prostate glands

seminal vesicle hypoplasia ( J:66593 )

♂ • treatment with exogenous gonadotropins stimulated enlargement of the hypoplastic seminal vesicles

abnormal Leydig cell morphology ( J:66593 )

♂ • mutant Leydig cells display none of the histological features typical of steroidogenic cells

decreased Leydig cell number ( J:66593 )

♂ • interstitial Leydig cells are severely reduced in number

♂ • treatment with exogenous gonadotropins stimulated Leydig cell hypertrophy and induced luminal opening of the seminiferous tubules

cryptorchism ( J:66593 )

♂ • mutant males have cryptorchid testes

external male genitalia hypoplasia ( J:66593 )

♂

internal male genitalia hypoplasia ( J:66593 )

♂

small gonad ( J:66593 )

• mutant gonads are severely hypoplastic

ovary hypoplasia ( J:66593 )

♀ • severe

testis hypoplasia ( J:66593 )

♂ • severe

delayed vaginal opening ( J:66593 )

• mutant vaginas fail to open at the normal age of puberty

absent sexual maturation ( J:66593 )

• both male and female mutants are viable but fail to show signs of secondary sexual maturation, even at 6 months of age

• both male and female mutants exhibit sexual infantilism of the accessory sex organs

anovulation ( J:66593 )

♀

female infertility ( J:66593 )

♀

male infertility ( J:66593 )

♂

homeostasis/metabolism

decreased follicle stimulating hormone level ( J:66593 )

• although mutant pituitaries appear histologically intact, immunoreactive FSH leves are virtually undetectable

• in contrast, pituitary ACTH, TSH and prolactin levels are comparable to those in wild-type pituitaries

decreased circulating follicle stimulating hormone level ( J:66593 )

• serum FSH levels are significantly reduced in both male and female mutants relative to wild-type controls

decreased luteinizing hormone level ( J:66593 )

• although mutant pituitaries appear histologically intact, immunoreactive LH leves are virtually undetectable

decreased circulating luteinizing hormone level ( J:66593 )

• serum LH levels are significantly reduced in male mutants relative to wild-type controls

cellular

abnormal spermatid morphology ( J:66593 )

♂ • no mature spermatids are observed

decreased male germ cell number ( J:66593 )

♂ • male germ cells are significantly reduced in number

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypogonadotropic hypogonadism		DOID:0090070	OMIM:PS147950	J:66593