Phenotypes Associated with This Genotype

Genotype
MGI:3762763

• Allelic Composition: Kiss1r^tm1Rla/Kiss1r^tm1Rla
• Genetic Background: involves: 129S1/SvImJ

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:126704 )

• only two-third of expected homozygote progeny are produced from heterozygote parents

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 divergent first occurs in days 23-25 post birth this divergent 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 )

♀ • ovary weight is 1/6^th of normal

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 is 24.2 grams compared to 141 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

growth/size/body

decreased body weight ( J:126704 )

• average weight of male mice is 3 grams less than wild-type littermates

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 )

♀ • ovary weight is 1/6^th of normal

decreased Leydig cell number ( J:126704 )

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

decreased testis weight ( J:126704 )

♂ • mean is 24.2 grams compared to 141 grams for wild-type mice

homeostasis/metabolism

decreased circulating testosterone level ( J:126704 )

• eight fold less in male mice

decreased circulating follicle stimulating hormone level ( J:126704 )

• more than 10 fold less in male mice

• 2 fold less in female mice

decreased luteinizing hormone level ( J:126704 )

• four fold less in male mice

digestive/alimentary system

abnormal anogenital distance ( J:126704 )

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

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

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 8 with or without anosmia		DOID:0090074	OMIM:614837	J:126704