All Phenotypes Nr5a1<tm2.1Klp> MGI Mouse

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

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 )

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

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

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

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

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

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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