cellular
azoospermia
(
J:122381
)
• males have absence of spermatozoa in most seminiferous tubules
|
• retains vacuolated fetal zone X, which is absent in wild-type animals that progress through puberty
|
growth/size/body
• at 2 months of age, mice are significantly smaller than wild-type littermates
|
endocrine/exocrine glands
• smaller than in controls
|
• retains vacuolated fetal zone X, which is absent in wild-type animals that progress through puberty
|
• poorly developed
|
• poorly developed
|
• lacking in female mutants
|
• late-stage antral follicles are absent
|
• females have large number of atretic follicles compared to wild-type
|
small ovary
(
J:122381
)
• smaller than in controls
|
• failure of Sertoli cell fluid secretion
|
• testes weigh 28.4 mg compared to 215.1 mg in control males
|
reproductive system
• poorly developed
|
• poorly developed
|
• lacking in female mutants
|
• late-stage antral follicles are absent
|
• females have large number of atretic follicles compared to wild-type
|
small ovary
(
J:122381
)
• smaller than in controls
|
• failure of Sertoli cell fluid secretion
|
• testes weigh 28.4 mg compared to 215.1 mg in control males
|
• uteri appear typical of those of mice before puberty with paucity of gland development and narrow endometrial layer
|
small uterus
(
J:122381
)
• uterus is thread-like in mutants relative to controls
|
• uterus is 5.38 mg compared to 84.67 mg in wild-type controls
|
• females fail to undergo normal vaginal opening at pubertal age
|
• few spermatozoa are found in testes and these fail to exit into the lumen of the epididymis
|
azoospermia
(
J:122381
)
• males have absence of spermatozoa in most seminiferous tubules
|
• spermiogenesis is incomplete
|
small penis
(
J:122381
)
|
• mice do not undergo pubertal sexual maturation
|
anovulation
(
J:122381
)
• failure of ovulation
|
• females do not progress through the oestrous cycle
|
homeostasis/metabolism
• testosterone levels in male mutants are nearly undetectable (<0.17 pg/ml) compared to wild-type (4.1 pg/ml)
|
• females do not show cyclic fluctuations in estradiol levels that are observed in wild-type females
|
• females have (not significantly) lower 17-beta-estradiol levels at proestrus
|
• mutants of both sexes have significantly lower plasma FSH levels compared to wild-type
|
• plasma LH levels are lower in male mutants (0.28 ng/ml) compared to wild-type; however, mutants show a greater LH response to treatment with kisspeptin-10 than wild-type
• levels in females are lower (0.30 ng/ml) than wild-type proestrus mice (0.46 ng/ml) but not compared to oestrus or diestrus/metestrus females
|
liver/biliary system
• smaller than in controls
|
renal/urinary system
• poorly developed
|
• smaller than in controls
|
small penis
(
J:122381
)
|
digestive/alimentary system
• smaller than in controls
|
integument
• poorly developed
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
hypogonadotropic hypogonadism 13 with or without anosmia | DOID:0090073 |
OMIM:614842 |
J:122381 |