Phenotypes Associated with This Genotype

Genotype
MGI:3762762

• Allelic Composition: Kiss1^tm1Rla/Kiss1^tm1Rla
• Genetic Background: involves: 129S1/SvImJ

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

reproductive system

abnormal spermatid morphology ( J:126704 )

♂ • either absent or in greatly reduced numbers

abnormal anogenital distance ( J:126704 )

• 13.1 + 1mm versus 17 + 2mm in wild-type mice

• this divergence first occurs in days 23-25 post birth

abnormal female reproductive system morphology ( J:126704 )

♀

absent corpus luteum ( J:126704 )

♀

absent ovarian follicles ( J:126704 )

♀

decreased ovary weight ( J:126704 )

♀ • bimodal distribution with half similar to wild-type, and half having an ovary weight 1/6^th of normal

ovary cyst ( J:126704 )

♀ • occurs in female mice that also have persistent vaginal cornification

abnormal vagina epithelium morphology ( J:126704 )

♀ • half of the mice have persistent vaginal cornification upon vaginal opening

abnormal male reproductive system morphology ( J:126704 )

♂

small male preputial gland ( J:126704 )

♂ • difficult to detect

seminal vesicle hypoplasia ( J:126704 )

♂ • difficult to detect

decreased Leydig cell number ( J:126704 )

♂ • reduced number of cells due to small small size of testis

decreased testis weight ( J:126704 )

♂ • mean weight of 39.0 grams compared to 141.0 grams for wild-type mice

delayed vaginal opening ( J:126704 )

• occurs on average 10 days later than in wild-type mice

absent estrous cycle ( J:126704 )

♀ • absence of estrous cycling in 9-11 week old female mice

female infertility ( J:126704 )

♀ • unable to produce offspring with wild-type partners

male infertility ( J:126704 )

♂ • unable to produce offspring with wild-type partners

endocrine/exocrine glands

small male preputial gland ( J:126704 )

♂ • difficult to detect

seminal vesicle hypoplasia ( J:126704 )

♂ • difficult to detect

absent corpus luteum ( J:126704 )

♀

absent ovarian follicles ( J:126704 )

♀

decreased ovary weight ( J:126704 )

♀ • bimodal distribution with half similar to wild-type, and half having an ovary weight 1/6^th of normal

ovary cyst ( J:126704 )

♀ • occurs in female mice that also have persistent vaginal cornification

decreased Leydig cell number ( J:126704 )

♂ • reduced number of cells due to small small size of testis

decreased testis weight ( J:126704 )

♂ • mean weight of 39.0 grams compared to 141.0 grams for wild-type mice

homeostasis/metabolism

decreased circulating follicle stimulating hormone level ( J:126704 )

• ten fold less in male mice

digestive/alimentary system

abnormal anogenital distance ( J:126704 )

• 13.1 + 1mm versus 17 + 2mm in wild-type mice

• this divergence first occurs in days 23-25 post birth

renal/urinary system

small male preputial gland ( J:126704 )

♂ • difficult to detect

integument

small male preputial gland ( J:126704 )

♂ • difficult to detect

growth/size/body

ovary cyst ( J:126704 )

♀ • occurs in female mice that also have persistent vaginal cornification

cellular

abnormal spermatid morphology ( J:126704 )

♂ • either absent or in greatly reduced numbers

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypogonadotropic hypogonadism 13 with or without anosmia		DOID:0090073	OMIM:614842	J:126704