Mouse Genome Informatics
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    Kiss1tm1Coll/Kiss1tm1Coll
involves: 129S/SvEv * 129S6/SvEvTac
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype

Reproductive system defects in female Kiss1tm1Coll/Kiss1tm1Coll mice.

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
• lacking in female mutants
• females have large number of atretic follicles compared to wild-type
• late-stage antral follicles are absent
• 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
• lacking in female mutants
• females have large number of atretic follicles compared to wild-type
• late-stage antral follicles are absent
• 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
• 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
• males have absence of spermatozoa in most seminiferous tubules
• spermiogenesis is incomplete
• mice do not undergo pubertal sexual maturation
• 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
• smaller than in controls

digestive/alimentary system
• smaller than in controls

integument

Mouse Models of Human Disease
OMIM IDRef(s)
Hypogonadotropic Hypogonadism 13 with or without Anosmia; HH13 614842 J:122381