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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nr5a1tm2.1Klp
targeted mutation 2.1, Keith L Parker
MGI:2180092
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nr5a1tm2.1Klp/Nr5a1tm2.1Klp involves: 129P2/OlaHsd MGI:2180093
cn2
Nr5a1tm2Klp/Nr5a1tm2.1Klp
Tg(Cga-cre)3Sac/0
involves: 129P2/OlaHsd * C57BL/6J * SJL MGI:2180104


Genotype
MGI:2180093
hm1
Allelic
Composition
Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr5a1tm2.1Klp mutation (0 available); any Nr5a1 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

endocrine/exocrine glands
• both sexes are agonadal

reproductive system
• both sexes are agonadal




Genotype
MGI:2180104
cn2
Allelic
Composition
Nr5a1tm2Klp/Nr5a1tm2.1Klp
Tg(Cga-cre)3Sac/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr5a1tm2.1Klp mutation (0 available); any Nr5a1 mutation (30 available)
Nr5a1tm2Klp mutation (2 available); any Nr5a1 mutation (30 available)
Tg(Cga-cre)3Sac mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• treatment with exogenous gonadotropins stimulated enlargement of the hypoplastic prostate glands
• treatment with exogenous gonadotropins stimulated enlargement of the hypoplastic seminal vesicles
• 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
• severe
• mutant Leydig cells display none of the histological features typical of steroidogenic cells
• interstitial Leydig cells are severely reduced in number
• treatment with exogenous gonadotropins stimulated Leydig cell hypertrophy and induced luminal opening of the seminiferous tubules
• severe
• mutant males have cryptorchid testes

reproductive system
• male germ cells are significantly reduced in number
• 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
• treatment with exogenous gonadotropins (PMSG) stimulated a significant increase in uterine size and development of the endometrial glands
• 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
• no mature spermatids are observed
• mutant males show hypoplastic external and internal genitalia
• treatment with exogenous gonadotropins stimulated enlargement of the hypoplastic prostate glands
• treatment with exogenous gonadotropins stimulated enlargement of the hypoplastic seminal vesicles
• mutant Leydig cells display none of the histological features typical of steroidogenic cells
• interstitial Leydig cells are severely reduced in number
• treatment with exogenous gonadotropins stimulated Leydig cell hypertrophy and induced luminal opening of the seminiferous tubules
• mutant males have cryptorchid testes
• mutant gonads are severely hypoplastic
• severe
• severe
• mutant vaginas fail to open at the normal age of puberty
• 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

homeostasis/metabolism
• 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
• serum FSH levels are significantly reduced in both male and female mutants relative to wild-type controls
• although mutant pituitaries appear histologically intact, immunoreactive LH leves are virtually undetectable
• serum LH levels are significantly reduced in male mutants relative to wild-type controls

cellular
• no mature spermatids are observed
• 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





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory