Phenotypes Associated with This Genotype

Genotype
MGI:5295418

• Allelic Composition: Mcm9^Gt(XG743)Byg/Mcm9^Gt(XG743)Byg
• Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ

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

Germ-cell depletion and loss of spermatogonial stem cells in Mcm9^Gt(XG743)Byg/Mcm9^Gt(XG743)Byg males

mortality/aging

mortality/aging ( J:177420 )

N • viable

liver/biliary system

increased hepatocellular carcinoma incidence ( J:177420 )

• increased incidence in males at 1 year of age and all affected mice have multiple hepatocellular carcinomas

reproductive system

reproductive system phenotype ( J:177420 )

N • males and young females are fertile

abnormal female germ cell morphology ( J:177420 )

♀ • germ cell loss

decreased oocyte number ( J:177420 )

♀ • newborn mice have 82% fewer oocytes

♀ • almost completely absent at 24 weeks of age

abnormal spermatogonia morphology ( J:177420 )

♂ • some (about 5%) seminiferous tubules lack spermatogonia

decreased male germ cell number ( J:177420 )

♂ • progressive germ cell depletion

oligozoospermia ( J:177420 )

♂ • a 67% decrease in epididymal sperm concentration at 12 weeks of age

♂ • despite the decrease in sperm concentration, males are fertile

decreased primordial germ cell number ( J:177420 )

• a 72% decrease of gonocytes in nascent seminiferous tubules

abnormal ovarian follicle number ( J:177420 )

♀ • decrease in the total number of follicles at 6 and 12 weeks of age

decreased primordial ovarian follicle number ( J:177420 )

♀ • nearly devoid of primordial follicles at 6 and 12 weeks of age

abnormal seminiferous tubule morphology ( J:177420 )

♂ • some tubules show progressive germ cell depletion, lack spermatogonia or contain a cohort of spermatocytes arrested in meiosis

small testis ( J:177420 )

♂ • detected at puberty and the difference in size compared to controls increases over time

increased ovary tumor incidence ( J:177420 )

♀ • at 1 year of age

arrest of male meiosis ( J:177420 )

♂ • about 5% of seminiferous tubules contain a cohort of spermatocytes arrested in meiosis

neoplasm

increased tumor incidence ( J:177420 )

• all males develop tumors by 1 year of age

increased ovary tumor incidence ( J:177420 )

♀ • at 1 year of age

increased hepatocellular carcinoma incidence ( J:177420 )

• increased incidence in males at 1 year of age and all affected mice have multiple hepatocellular carcinomas

cellular

abnormal female germ cell morphology ( J:177420 )

♀ • germ cell loss

decreased oocyte number ( J:177420 )

♀ • newborn mice have 82% fewer oocytes

♀ • almost completely absent at 24 weeks of age

abnormal spermatogonia morphology ( J:177420 )

♂ • some (about 5%) seminiferous tubules lack spermatogonia

decreased male germ cell number ( J:177420 )

♂ • progressive germ cell depletion

oligozoospermia ( J:177420 )

♂ • a 67% decrease in epididymal sperm concentration at 12 weeks of age

♂ • despite the decrease in sperm concentration, males are fertile

decreased primordial germ cell number ( J:177420 )

• a 72% decrease of gonocytes in nascent seminiferous tubules

abnormal cell cycle ( J:177420 )

• MEFs show a delay in progression from G0/G1 to S phase following release from serum starvation in the presence of aphidicolin

early cellular replicative senescence ( J:177420 )

• in primary MEFs

spontaneous chromosome breakage ( J:177420 )

• increase in metaphase chromatid breaks

hematopoietic system

abnormal definitive hematopoiesis ( J:177420 )

• circulating micronucleus levels are increased

endocrine/exocrine glands

abnormal ovarian follicle number ( J:177420 )

♀ • decrease in the total number of follicles at 6 and 12 weeks of age

decreased primordial ovarian follicle number ( J:177420 )

♀ • nearly devoid of primordial follicles at 6 and 12 weeks of age

abnormal seminiferous tubule morphology ( J:177420 )

♂ • some tubules show progressive germ cell depletion, lack spermatogonia or contain a cohort of spermatocytes arrested in meiosis

small testis ( J:177420 )

♂ • detected at puberty and the difference in size compared to controls increases over time

increased ovary tumor incidence ( J:177420 )

♀ • at 1 year of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hepatocellular carcinoma		DOID:684	OMIM:114550	J:177420