Phenotypes Associated with This Genotype

Genotype
MGI:6842953

• Allelic Composition: Ggcx^tm1Sinos/Ggcx^tm1Sinos; Tg(AMH-cre)#Sinos/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

reproductive system

reproductive system phenotype ( J:307381 )

♀N • female mice exhibit normal reproductive ability

oligozoospermia ( J:307381 )

♂ • concentration of epididymal spermatozoa is significantly decreased at 4 months of age

teratozoospermia ( J:307381 )

♂ • percentage of morphologically abnormal spermatozoa with disordered flagella and sperm heads (e.g. coiled tails, bent sperm necks, and bent or unclear sperm heads) are significantly increased

abnormal sperm flagellum morphology ( J:307381 )

♂ • disordered sperm flagella including round tails are observed

abnormal sperm midpiece morphology ( J:307381 )

♂ • bent sperm midpieces are observed

coiled sperm flagellum ( J:307381 )

♂ • coiled sperm tails are observed

abnormal sperm head morphology ( J:307381 )

♂ • bent or unclear sperm heads are observed

abnormal spermatid morphology ( J:307381 )

♂ • TEM revealed multinuclear spermatids with chromatin aggregation, nuclear fragmentation, vacuoles, and destroyed organelles

increased male germ cell apoptosis ( J:307381 )

♂ • number of TUNEL+ germ cells per seminiferous tubule is significantly increased at 2, 4 and 8 months of age, indicating apoptotic degeneration of spermatids and spermatocytes

increased testis apoptosis ( J:307381 )

♂ • large TUNEL+ spermatocytes are observed in the testes at 2, 4 and 8 months of age

♂ • Bax mRNA expression levels and Bax/Bcl2 ratios are significantly increased at 8 months of age

abnormal sperm motility ( J:307381 )

♂ • percentage of irregularly moving sperm cells is drastically increased

♂ • however, no defect in sperm capacitation is observed

decreased hyperactivated sperm motility ( J:307381 )

♂ • percentage of normal hyperactive sperm cells is reduced to half of that in control testes

abnormal testis morphology ( J:307381 )

♂ • testicular histology is drastically abnormal at 4 and 8 months, but not at 2 months of age

abnormal seminiferous tubule morphology ( J:307381 )

♂ • large multinuclear spermatids and intercellular space are observed at 4 months of age

♂ • large clear lumen regions with severely reduced spermatids are noted at 8 months of age

abnormal Sertoli cell morphology ( J:307381 )

♂ • protein expression and localization of GJA1 (also known as Cx43) are disordered in Sertoli cells: Cx43-positive signals are slightly moved to the inner side of the seminiferous tubules at 4 months and their intensity is markedly reduced at 8 months

small testis ( J:307381 )

♂ • testes are significantly smaller at 2, 4 and 8 months of age

decreased testis weight ( J:307381 )

♂ • testis weight is significantly reduced at 2, 4 and 8 months of age

♂ • however, serum testosterone levels are normal at all tested ages

testicular atrophy ( J:307381 )

♂ • testes show substantial atrophy in the seminiferous tubules at 4 and 8 months

male infertility ( J:307381 )

♂ • males exhibit late-onset infertility with loss of reproductive ability noted at 3 and 6 months but not at 2 months of age

♂ • however, copulatory plugs are observed in mated wild-type females

cellular

oligozoospermia ( J:307381 )

♂ • concentration of epididymal spermatozoa is significantly decreased at 4 months of age

teratozoospermia ( J:307381 )

♂ • percentage of morphologically abnormal spermatozoa with disordered flagella and sperm heads (e.g. coiled tails, bent sperm necks, and bent or unclear sperm heads) are significantly increased

abnormal sperm flagellum morphology ( J:307381 )

♂ • disordered sperm flagella including round tails are observed

abnormal sperm midpiece morphology ( J:307381 )

♂ • bent sperm midpieces are observed

coiled sperm flagellum ( J:307381 )

♂ • coiled sperm tails are observed

abnormal sperm head morphology ( J:307381 )

♂ • bent or unclear sperm heads are observed

abnormal spermatid morphology ( J:307381 )

♂ • TEM revealed multinuclear spermatids with chromatin aggregation, nuclear fragmentation, vacuoles, and destroyed organelles

increased male germ cell apoptosis ( J:307381 )

♂ • number of TUNEL+ germ cells per seminiferous tubule is significantly increased at 2, 4 and 8 months of age, indicating apoptotic degeneration of spermatids and spermatocytes

increased testis apoptosis ( J:307381 )

♂ • large TUNEL+ spermatocytes are observed in the testes at 2, 4 and 8 months of age

♂ • Bax mRNA expression levels and Bax/Bcl2 ratios are significantly increased at 8 months of age

abnormal sperm motility ( J:307381 )

♂ • percentage of irregularly moving sperm cells is drastically increased

♂ • however, no defect in sperm capacitation is observed

decreased hyperactivated sperm motility ( J:307381 )

♂ • percentage of normal hyperactive sperm cells is reduced to half of that in control testes

endocrine/exocrine glands

increased testis apoptosis ( J:307381 )

♂ • large TUNEL+ spermatocytes are observed in the testes at 2, 4 and 8 months of age

♂ • Bax mRNA expression levels and Bax/Bcl2 ratios are significantly increased at 8 months of age

abnormal testis morphology ( J:307381 )

♂ • testicular histology is drastically abnormal at 4 and 8 months, but not at 2 months of age

abnormal seminiferous tubule morphology ( J:307381 )

♂ • large multinuclear spermatids and intercellular space are observed at 4 months of age

♂ • large clear lumen regions with severely reduced spermatids are noted at 8 months of age

abnormal Sertoli cell morphology ( J:307381 )

♂ • protein expression and localization of GJA1 (also known as Cx43) are disordered in Sertoli cells: Cx43-positive signals are slightly moved to the inner side of the seminiferous tubules at 4 months and their intensity is markedly reduced at 8 months

small testis ( J:307381 )

♂ • testes are significantly smaller at 2, 4 and 8 months of age

decreased testis weight ( J:307381 )

♂ • testis weight is significantly reduced at 2, 4 and 8 months of age

♂ • however, serum testosterone levels are normal at all tested ages

testicular atrophy ( J:307381 )

♂ • testes show substantial atrophy in the seminiferous tubules at 4 and 8 months