All Phenotypes Ggcx<tm1Sinos> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ggcx^tm1Sinos/Ggcx^tm1Sinos Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺	B6.Cg-Ggcx^tm1Sinos Speer6-ps1^{Tg(Alb-cre)21Mgn}	MGI:5662240
cn2	Ggcx^tm1Sinos/Ggcx⁺ Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺	B6.Cg-Ggcx^tm1Sinos Speer6-ps1^{Tg(Alb-cre)21Mgn}	MGI:5662241
cn3	Ggcx^tm1Sinos/Ggcx^tm1Sinos Tg(AMH-cre)#Sinos/0	involves: 129S2/SvPas * C57BL/6	MGI:6842953
cn4	Ggcx^tm1Sinos/Ggcx^tm1Sinos Tg(AMH-cre)#Sinos/0 Tg(AMH-Gja1*)#Sinos/0	involves: 129S2/SvPas * C57BL/6	MGI:6842960

Allelic Composition	Ggcx^tm1Sinos/Ggcx^tm1Sinos Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
Genetic Background	B6.Cg-Ggcx^tm1Sinos Speer6-ps1^{Tg(Alb-cre)21Mgn}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ggcx^tm1Sinos mutation (1 available); any Ggcx mutation (37 available)
Speer6-ps1^{Tg(Alb-cre)21Mgn} mutation (6 available); any Speer6-ps1 mutation (4 available)

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

mortality/aging

premature death ( J:212951 )

• mice are born alive and survive for at least several weeks but die of fatal bleeding as a result of bleeding diathesis, injury and pregnancy

• when kept separately without mating, female mice survive significantly longer than male mice

• male mice begin to die from day 27 after birth, and all males die within 80 days after birth

• female mice begin to die from day 39 after birth and 7 out of 11 (63.6%) survive longer than 100 days, unless they become pregnant

pregnancy-related premature death ( J:212951 )

• pregnancy causes fatal vaginal and uterine bleeding

cardiovascular system

uterine hemorrhage ( J:212951 )

• dissection of pregnant female mice just after death revealed uterine bleeding

vaginal hemorrhage ( J:212951 )

• dissection of pregnant female mice just after death revealed vaginal bleeding

subcutaneous hemorrhage ( J:212951 )

• at 9 weeks of age, massive subcutaneous bleeding is noted even before death

homeostasis/metabolism

impaired blood coagulation ( J:212951 )

• activities of vitamin K-dependent coagulation factors II and IX are significantly decreased relative to wild-type controls

increased bleeding time ( J:212951 )

• mice exhibit a bleeding diathesis and continue to bleed for >30 minutes after tail incision

• however, the platelet count is not significantly altered, suggesting that increased bleeding time is due to defective secondary coagulation

hematopoietic system

anemia ( J:212951 )

• mice appear to die of anemia secondary to bleeding

integument

subcutaneous hemorrhage ( J:212951 )

• at 9 weeks of age, massive subcutaneous bleeding is noted even before death

reproductive system

uterine hemorrhage ( J:212951 )

• dissection of pregnant female mice just after death revealed uterine bleeding

vaginal hemorrhage ( J:212951 )

• dissection of pregnant female mice just after death revealed vaginal bleeding

Allelic Composition	Ggcx^tm1Sinos/Ggcx⁺ Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
Genetic Background	B6.Cg-Ggcx^tm1Sinos Speer6-ps1^{Tg(Alb-cre)21Mgn}

Find Mice

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

mortality/aging

mortality/aging ( J:212951 )

N	• none of the control heterozygotes died within the 100 days of the observation period

♀	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 )

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

Allelic Composition	Ggcx^tm1Sinos/Ggcx^tm1Sinos Tg(AMH-cre)#Sinos/0 Tg(AMH-Gja1*)#Sinos/0
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ggcx^tm1Sinos mutation (1 available); any Ggcx mutation (37 available)
Tg(AMH-cre)#Sinos mutation (0 available)
Tg(AMH-Gja1*)#Sinos mutation (0 available)

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

reproductive system

reproductive system phenotype ( J:307381 )

• mice exhibit normal male fertility at 2 and 8 months of age and show no significant alterations in testis size, testis weight and seminiferous tubule histology or in GJA1 (Cx43) protein distribution at 8 months of age relative to controls, indicating that GJA1 overexpression in Sertoli cells rescues the sterility and testicular pathology phenotypes observed in Sertoli cell-specific Ggcx conditional knockout mice

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