Phenotypes associated with this allele

• Allele Symbol: Nr5a1^tm2Klp
• Allele Name: targeted mutation 2, Keith L Parker
• Allele ID: MGI:2180013
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nr5a1^tm2Klp/Nr5a1^tm2Klp	involves: 129P2/OlaHsd	MGI:2180103
ht2	Nr5a1^tm1Klp/Nr5a1^tm2Klp	involves: 129P2/OlaHsd	MGI:7280686
cn3	Cyp11b2^tm1.1(cre)Brlt/Cyp11b2^+ Nr5a1^tm2Klp/Nr5a1^tm2Klp	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:5550087
cn4	Amhr2^tm3(cre)Bhr/Amhr2^+ Nr5a1^tm1Klp/Nr5a1^tm2Klp	involves: 129P2/OlaHsd * 129S7/SvEvBrd	MGI:4361353
cn5	Nr5a1^tm2Klp/Nr5a1^tm2Klp Tg(Cga-cre)3Sac/0	involves: 129P2/OlaHsd * C57BL/6J * SJL	MGI:2180121
cn6	Nr5a1^tm2Klp/Nr5a1^tm2.1Klp Tg(Cga-cre)3Sac/0	involves: 129P2/OlaHsd * C57BL/6J * SJL	MGI:2180104

Genotype
MGI:2180103

hm1

• Allelic Composition: Nr5a1^tm2Klp/Nr5a1^tm2Klp
• Genetic Background: involves: 129P2/OlaHsd

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

normal phenotype

no abnormal phenotype detected ( J:66593 )

• homozygotes are phenotypically normal and fertile

Genotype
MGI:7280686

ht2

• Allelic Composition: Nr5a1^tm1Klp/Nr5a1^tm2Klp
• Genetic Background: involves: 129P2/OlaHsd

reproductive system

decreased ovary weight ( J:145805 )

♀ • adult ovaries weigh significantly less than those from wild-type controls (5.05 +/- 0.50 mg versus 7.39 +/- 0.52 mg)

ovary hypoplasia ( J:145805 )

♀ • adult females show mild ovarian hypoplasia

♀ • however, female fertility is not impaired and ovarian function is largely normal

decreased superovulation rate ( J:145805 )

♀ • following gonadotropin-induced ovulation, 8- to 12-wk-old females ovulate an average of 23.3 +/- 5.1 oocytes per female versus 35.3 +/- 2.9 oocytes per female in wild-type controls

endocrine/exocrine glands

decreased ovary weight ( J:145805 )

♀ • adult ovaries weigh significantly less than those from wild-type controls (5.05 +/- 0.50 mg versus 7.39 +/- 0.52 mg)

ovary hypoplasia ( J:145805 )

♀ • adult females show mild ovarian hypoplasia

♀ • however, female fertility is not impaired and ovarian function is largely normal

Genotype
MGI:5550087

cn3

• Allelic Composition: Cyp11b2^{tm1.1(cre)Brlt}/Cyp11b2⁺; Nr5a1^tm2Klp/Nr5a1^tm2Klp
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

endocrine/exocrine glands

abnormal adrenal gland zona glomerulosa morphology ( J:204614 )

• zone is disorganized with pleomorphic nuclei, whereas inner zona fasciculata appears normal in young and old mice

• cells in the zona granulosa dedifferentiated with Nr5a1 deletion

Genotype
MGI:4361353

cn4

• Allelic Composition: Amhr2^tm3(cre)Bhr/Amhr2⁺; Nr5a1^tm1Klp/Nr5a1^tm2Klp
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

reproductive system

absent corpus luteum ( J:91352 , J:145805 )

♀ (J:91352)

♀ (J:145805)

abnormal ovarian follicle number ( J:91352 , J:145805 )

♀ • adult ovaries show a reduction in the total number of ovarian follicles (J:91352)

♀ • at P21 (just before the initiation of puberty), the number of growing follicles as well as the total number of follicles is significantly reduced (J:145805)

decreased primary ovarian follicle number ( J:145805 )

♀ • at P21, the number of primary follicles is significantly decreased

decreased primordial ovarian follicle number ( J:145805 )

♀ • at P21, the number of primordial follicles (the primordial follicle pool) is significantly decreased

♀ • decreased reserve of follicles persists into adulthood

decreased secondary ovarian follicle number ( J:145805 )

♀ • at P21, the number of small pre-antral follicles is significantly decreased

decreased tertiary ovarian follicle number ( J:145805 )

♀ • at P21, the number of antral follicles is significantly decreased

impaired ovarian folliculogenesis ( J:145805 )

♀ • adult ovaries exhibit the normal range of follicles up to the preovulatory stage but no corpora lutea, suggesting a defect in the final steps of folliculogenesis and/or ovulation

ovarian follicular cyst ( J:91352 )

♀ • the few remaining ovarian follicles contain hemorrhagic cysts

decreased ovary weight ( J:145805 )

♀ • adult ovaries weigh significantly less than those from wild-type controls (1.79 +/- 0.15 mg versus 7.39 +/- 0.52 mg)

ovary hypoplasia ( J:91352 , J:145805 )

♀ • adult ovaries are normally positioned adjacent to the oviducts but appear hypoplastic (J:91352)

♀ • however, at E14.5 and E16.5, ovaries and internal genital structures show no differences in size or histology relative to wild-type ovaries (J:91352)

♀ (J:145805)

abnormal seminiferous tubule morphology ( J:91352 )

♂ • in adult males, the lumens of the seminiferous tubules fail to open, suggesting impaired Sertoli cell secretion of fluid

abnormal testis development ( J:91352 )

♂ • at E14.5, testes are located adjacent to the kidneys but are significantly smaller and do not contain distinct testes cords

♂ • at E16.5, testes remain smaller than wild-type testes but have organized into testicular cords

♂ • delayed testis development is associated with decreased Leydig cell expression of essential components of testosterone biosynthesis

abnormal testis cord formation ( J:91352 )

♂ • at E14.5, testes display delayed organization of the testes cords

small testis ( J:91352 )

♂ • at E14.5 and E16.5, testes are significantly smaller than wild-type

testis hypoplasia ( J:91352 )

♂ • adult male mice display significantly hypoplastic testes

♂ • at E14.5 and E16.5, decreased testis size is associated with reduced cell proliferation in somatic cells of the testes

cryptorchism ( J:91352 )

♂ • testes remain at the level of the bladder within the abdominal cavity

♂ • however, no structures derived from the Mullerian ducts (such as oviducts or uterus) are observed

abnormal ovary physiology ( J:145805 )

♀ • adult ovaries show significantly reduced basal and eCG-stimulated expression of Amh (anti-Mullerian hormone) as well as decreased eCG-induced ovarian expression of aromatase (Cyp19a1) and cyclin D2 (Ccnd2) relative to control ovaries

♀ • in contrast, ovaries exhibit increased basal expression of Inha (inhibin-alpha) but -- unlike control ovaries -- fail to show increased Inha expression in response to eCG stimulation

ovary hemorrhage ( J:91352 )

♀ • the few remaining ovarian follicles contain hemorrhagic cysts

decreased granulosa cell proliferation ( J:145805 )

♀ • granulosa cells of growing follicles show significantly reduced expression of CCND2 (cyclin D2) and MKI67 (Ki67) but increased expression of CDKN1B (p27), suggesting impaired granulosa cell proliferation

abnormal uterus morphology ( J:145805 )

♀ • at 8-10 weeks of age, uterine histology revealed a reduction in epithelial, myometrial, and stromal layers

abnormal endometrial gland morphology ( J:145805 )

♀ • the glandular elements of the endometrial layer appear less complex

abnormal endometrial gland development ( J:145805 )

♀ • endometrial glands exhibit a less differentiated glandular structure than in control uteri

decreased endometrial gland number ( J:145805 )

♀ • only a few scattered endometrial glands are detected in the stroma

thin myometrium ( J:145805 )

♀

decreased uterus weight ( J:145805 )

♀ • at 8-10 weeks of age, uterine weight is significantly lower than in control females

arrest of spermatogenesis ( J:91352 )

♂ • spermatogonia fail to develop into mature sperm

internal male genitalia hypoplasia ( J:91352 )

♂ • male mice display significantly hypoplastic internal genitalia

absent sexual maturation ( J:91352 )

• both male and female mice display no postnatal sexual maturation

• however, both male and female mice exhibit normal external genitalia at birth

abnormal ovulation ( J:91352 )

♀ • absence of corpora lutea indicates impaired ovulation

decreased superovulation rate ( J:145805 )

♀ • after gonadotropin-induced ovulation, 8- to 12-wk-old females ovulate an average of only 1.0 +/- 0.7 oocytes per female versus 35.3 +/- 2.9 oocytes per female in wild-type controls (i.e. females heterozygous for the Nr5a1^tm2Klp allele but negative for the Amhr2^tm3(cre)Bhr allele)

♀ • following superovulation induction, 80% of females had no oocytes retrieved from the oviducts; 2 females released 3 and 4 oocytes each, some found in immature stages of development

abnormal estrous cycle ( J:145805 )

♀ • estrous cycles range from abnormally prolonged cycles (50%) to complete acyclicity (50%)

short estrus ( J:145805 )

♀ • when observed, estrous phase length is significantly shorter than in control females

absent estrous cycle ( J:145805 )

♀ • 50% of females are completely acyclic

prolonged estrous cycle ( J:145805 )

♀ • 50% of females show abnormally prolonged cycles

female infertility ( J:91352 , J:145805 )

♀ • female mice are sterile (J:91352)

♀ • when mated with young wild-type male mice, no adult females delivered any pups during a >1 yr observation period (J:145805)

male infertility ( J:91352 )

♂ • male mice are sterile

endocrine/exocrine glands

small adrenal glands ( J:91352 )

• adrenal glands are smaller than wild-type but appear histologically intact

abnormal endometrial gland morphology ( J:145805 )

♀ • the glandular elements of the endometrial layer appear less complex

abnormal endometrial gland development ( J:145805 )

♀ • endometrial glands exhibit a less differentiated glandular structure than in control uteri

decreased endometrial gland number ( J:145805 )

♀ • only a few scattered endometrial glands are detected in the stroma

absent corpus luteum ( J:91352 , J:145805 )

♀ (J:91352)

♀ (J:145805)

abnormal ovarian follicle number ( J:91352 , J:145805 )

♀ • adult ovaries show a reduction in the total number of ovarian follicles (J:91352)

♀ • at P21 (just before the initiation of puberty), the number of growing follicles as well as the total number of follicles is significantly reduced (J:145805)

decreased primary ovarian follicle number ( J:145805 )

♀ • at P21, the number of primary follicles is significantly decreased

decreased primordial ovarian follicle number ( J:145805 )

♀ • at P21, the number of primordial follicles (the primordial follicle pool) is significantly decreased

♀ • decreased reserve of follicles persists into adulthood

decreased secondary ovarian follicle number ( J:145805 )

♀ • at P21, the number of small pre-antral follicles is significantly decreased

decreased tertiary ovarian follicle number ( J:145805 )

♀ • at P21, the number of antral follicles is significantly decreased

impaired ovarian folliculogenesis ( J:145805 )

♀ • adult ovaries exhibit the normal range of follicles up to the preovulatory stage but no corpora lutea, suggesting a defect in the final steps of folliculogenesis and/or ovulation

ovarian follicular cyst ( J:91352 )

♀ • the few remaining ovarian follicles contain hemorrhagic cysts

decreased ovary weight ( J:145805 )

♀ • adult ovaries weigh significantly less than those from wild-type controls (1.79 +/- 0.15 mg versus 7.39 +/- 0.52 mg)

ovary hypoplasia ( J:91352 , J:145805 )

♀ • adult ovaries are normally positioned adjacent to the oviducts but appear hypoplastic (J:91352)

♀ • however, at E14.5 and E16.5, ovaries and internal genital structures show no differences in size or histology relative to wild-type ovaries (J:91352)

♀ (J:145805)

abnormal seminiferous tubule morphology ( J:91352 )

♂ • in adult males, the lumens of the seminiferous tubules fail to open, suggesting impaired Sertoli cell secretion of fluid

abnormal testis development ( J:91352 )

♂ • at E14.5, testes are located adjacent to the kidneys but are significantly smaller and do not contain distinct testes cords

♂ • at E16.5, testes remain smaller than wild-type testes but have organized into testicular cords

♂ • delayed testis development is associated with decreased Leydig cell expression of essential components of testosterone biosynthesis

abnormal testis cord formation ( J:91352 )

♂ • at E14.5, testes display delayed organization of the testes cords

small testis ( J:91352 )

♂ • at E14.5 and E16.5, testes are significantly smaller than wild-type

testis hypoplasia ( J:91352 )

♂ • adult male mice display significantly hypoplastic testes

♂ • at E14.5 and E16.5, decreased testis size is associated with reduced cell proliferation in somatic cells of the testes

cryptorchism ( J:91352 )

♂ • testes remain at the level of the bladder within the abdominal cavity

♂ • however, no structures derived from the Mullerian ducts (such as oviducts or uterus) are observed

abnormal ovary physiology ( J:145805 )

♀ • adult ovaries show significantly reduced basal and eCG-stimulated expression of Amh (anti-Mullerian hormone) as well as decreased eCG-induced ovarian expression of aromatase (Cyp19a1) and cyclin D2 (Ccnd2) relative to control ovaries

♀ • in contrast, ovaries exhibit increased basal expression of Inha (inhibin-alpha) but -- unlike control ovaries -- fail to show increased Inha expression in response to eCG stimulation

ovary hemorrhage ( J:91352 )

♀ • the few remaining ovarian follicles contain hemorrhagic cysts

decreased granulosa cell proliferation ( J:145805 )

♀ • granulosa cells of growing follicles show significantly reduced expression of CCND2 (cyclin D2) and MKI67 (Ki67) but increased expression of CDKN1B (p27), suggesting impaired granulosa cell proliferation

homeostasis/metabolism

decreased circulating testosterone level ( J:91352 )

• adult males exhibit plasma testosterone levels that are indistinguishable from those of prepubertal wild-type males

decreased circulating estradiol level ( J:145805 )

♀ • in response to eCG stimulation, 8-12-wk-old females show a significantly blunted increase in plasma estradiol levels relative to control females

♀ • however, basal plasma estradiol levels are normal

increased circulating follicle stimulating hormone level ( J:145805 )

♀ • basal plasma FSH levels are significantly higher than in wild-type females

growth/size/body

ovarian follicular cyst ( J:91352 )

♀ • the few remaining ovarian follicles contain hemorrhagic cysts

cellular

decreased granulosa cell proliferation ( J:145805 )

♀ • granulosa cells of growing follicles show significantly reduced expression of CCND2 (cyclin D2) and MKI67 (Ki67) but increased expression of CDKN1B (p27), suggesting impaired granulosa cell proliferation

cardiovascular system

ovary hemorrhage ( J:91352 )

♀ • the few remaining ovarian follicles contain hemorrhagic cysts

Genotype
MGI:2180121

cn5

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

reproductive system

abnormal sex gland morphology ( J:70412 )

prostate gland hypoplasia ( J:70412 )

♂ • similar to that observed in mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

seminal vesicle hypoplasia ( J:70412 )

♂ • similar to that observed in mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

absent corpus luteum ( J:70412 )

♀

absent mature ovarian follicles ( J:70412 )

♀ • neither large preovulatory follicles nor corpora lutea are observed, similar to mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

impaired ovarian folliculogenesis ( J:70412 )

♀ • mutant mice display absence of follicular maturation beyond the antral stage

small ovary ( J:70412 )

♀ • although mutant ovaries are smaller than wild-type, they are significantly larger than those of mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

decreased ovary weight ( J:70412 )

♀ • at 8 weeks of age, the weight of mutant ovaries (0.06 g/kg) is significantly lower than wild-type (0.47 g/kg), but higher than that of mice which are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac (0.01 g/kg)

decreased Leydig cell number ( J:70412 )

♂ • at 8 weeks of age, mutant interstitial Leydig cells are severely hypoplastic

♂ • in contrast, Sertoli cells and developing germ cells (including mature sperm) are relatively intact

small testis ( J:70412 )

♂ • although mutant testes are smaller than wild-type, they are significantly larger than those of mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

decreased testis weight ( J:70412 )

♂ • at 8 weeks of age, the weight of mutant testes (3.7 g/kg) is significantly lower than wild-type (7.9 g/kg), but significantly higher than that of mice which are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac (0.4 g/kg)

uterus hypoplasia ( J:70412 )

♀ • similar to that observed in mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

small gonad ( J:70412 )

• both male and female mutants show a milder degree of (hypomorphic) hypogonadism than mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

absent sexual maturation ( J:70412 )

• both male and female mutants show little evidence for secondary sexual maturation

female infertility ( J:70412 )

♀

male infertility ( J:70412 )

♂

endocrine/exocrine glands

abnormal sex gland morphology ( J:70412 )

prostate gland hypoplasia ( J:70412 )

♂ • similar to that observed in mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

seminal vesicle hypoplasia ( J:70412 )

♂ • similar to that observed in mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

absent corpus luteum ( J:70412 )

♀

absent mature ovarian follicles ( J:70412 )

♀ • neither large preovulatory follicles nor corpora lutea are observed, similar to mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

impaired ovarian folliculogenesis ( J:70412 )

♀ • mutant mice display absence of follicular maturation beyond the antral stage

small ovary ( J:70412 )

♀ • although mutant ovaries are smaller than wild-type, they are significantly larger than those of mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

decreased ovary weight ( J:70412 )

♀ • at 8 weeks of age, the weight of mutant ovaries (0.06 g/kg) is significantly lower than wild-type (0.47 g/kg), but higher than that of mice which are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac (0.01 g/kg)

decreased Leydig cell number ( J:70412 )

♂ • at 8 weeks of age, mutant interstitial Leydig cells are severely hypoplastic

♂ • in contrast, Sertoli cells and developing germ cells (including mature sperm) are relatively intact

small testis ( J:70412 )

♂ • although mutant testes are smaller than wild-type, they are significantly larger than those of mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

decreased testis weight ( J:70412 )

♂ • at 8 weeks of age, the weight of mutant testes (3.7 g/kg) is significantly lower than wild-type (7.9 g/kg), but significantly higher than that of mice which are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac (0.4 g/kg)

homeostasis/metabolism

decreased circulating follicle stimulating hormone level ( J:70412 )

• mutant mice of both sexes show circulating FSH levels (4.5 ng/ml males, 5.2 ng/ml females) that are intermediate between those of wild-type mice (31.35 ng/ml males, 12.4 ng/ml females) and mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac (1.2 ng/ml males, 2.7 ng/ml females)

decreased circulating luteinizing hormone level ( J:70412 )

• mutant males display a severe reduction in circulating LH levels similar to that observed in mice that are heterozygous for Nr5a1^tm2Klp and Nr5a1^tm2.1Klp and hemizygous for Tg(Cga-cre)3Sac

behavior/neurological

abnormal sexual interaction ( J:70412 )

• mutants do not engage in sexual activity

Genotype
MGI:2180104

cn6

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

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