Phenotypes associated with this allele

• Allele Symbol: Knstrn^{tm1d(KOMP)Wtsi}
• Allele Name: targeted mutation 1d, Wellcome Trust Sanger Institute
• Allele ID: MGI:5544487
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Knstrn^tm1d(KOMP)Wtsi/Knstrn^tm1d(KOMP)Wtsi	involves: C57BL/6J * C57BL/6N	MGI:5792824

Genotype
MGI:5792824

hm1

• Allelic Composition: Knstrn^{tm1d(KOMP)Wtsi}/Knstrn^{tm1d(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6J * C57BL/6N
• Cell Lines: EPD0125_3_H05

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

reproductive system

reproductive system phenotype ( J:232595 )

♀N • although crosses involving a heterozygous father and a homozygous mother lead to reduced litter sizes, normal amounts of apparently healthy oocytes are observed

decreased male germ cell number ( J:232595 )

♂ • at days 4, 7 and 9 post-partum, the number of germ cells but not Sertoli cells in seminiferous tubules is significantly lower than that in age-matched wild-type controls

♂ • the % of seminiferous tubules devoid of germ cells is highest at day 4 and day 9 post-partum, whereas germ cells are present in 80% of all tubule sections at day 7 post-partum

increased testis apoptosis ( J:232595 )

♂ • TUNEL analysis revealed that apoptosis in seminiferous tubules is significantly increased at day 9 post-partum, but not at day 4 post-partum or in adults, relative to wild-type controls

abnormal seminiferous tubule morphology ( J:232595 )

♂ • although germ cells undergo all stages of spermatogenesis, less than 4% of adult seminiferous tubules appear normal with most tubules displaying signs of Sertoli cell vacuolization

♂ • immunostaining analysis of germ cells and Sertoli cells confirmed that tubules are almost completely devoid of germ cells, with only a single row of Sertoli cells and some spermatogonia frequently seen at the basal lamina

abnormal Sertoli cell morphology ( J:232595 )

♂ • most adult seminiferous tubules exhibit signs of Sertoli cell vacuolization

♂ • however, no differences in Sertoli cell number are noted at days 4, 7 and 9 post-partum relative to wild-type controls

small testis ( J:232595 )

♂ • adult testis size is significantly reduced

decreased testis weight ( J:232595 )

♂ • testes-to-body weight ratio is significantly lower than that in wild-type controls from day 7 post-partum (ppt) to 12 weeks of age

abnormal spermatogenesis ( J:232595 )

♂ • spermatogenesis is disrupted shortly after birth, before entry in meiosis

oligozoospermia ( J:232595 )

♂ • at 15 weeks of age, mean number of sperm cells per epididymis is significantly reduced

abnormal spermatogonia proliferation ( J:232595 )

♂ • the total number of spermatogonia per seminiferous tubule is significantly lower than that in wild-type controls, suggesting reduced spermatogonial proliferation

reduced fertility ( J:232595 )

• litter sizes of crosses involving one homozygous mutant parent are reduced

decreased litter size ( J:232595 )

• intercrosses involving one homozygous mutant parent lead to reduced litter size: 4.1 +/- 2.5 pups with a homozygous mutant mother and 4.8 +/- 1.9 pups with a homozygous mutant father versus 6.9 +/- 1.88 pups in crosses between heterozygous mice

endocrine/exocrine glands

increased testis apoptosis ( J:232595 )

♂ • TUNEL analysis revealed that apoptosis in seminiferous tubules is significantly increased at day 9 post-partum, but not at day 4 post-partum or in adults, relative to wild-type controls

abnormal seminiferous tubule morphology ( J:232595 )

♂ • although germ cells undergo all stages of spermatogenesis, less than 4% of adult seminiferous tubules appear normal with most tubules displaying signs of Sertoli cell vacuolization

♂ • immunostaining analysis of germ cells and Sertoli cells confirmed that tubules are almost completely devoid of germ cells, with only a single row of Sertoli cells and some spermatogonia frequently seen at the basal lamina

abnormal Sertoli cell morphology ( J:232595 )

♂ • most adult seminiferous tubules exhibit signs of Sertoli cell vacuolization

♂ • however, no differences in Sertoli cell number are noted at days 4, 7 and 9 post-partum relative to wild-type controls

small testis ( J:232595 )

♂ • adult testis size is significantly reduced

decreased testis weight ( J:232595 )

♂ • testes-to-body weight ratio is significantly lower than that in wild-type controls from day 7 post-partum (ppt) to 12 weeks of age

cellular

decreased male germ cell number ( J:232595 )

♂ • at days 4, 7 and 9 post-partum, the number of germ cells but not Sertoli cells in seminiferous tubules is significantly lower than that in age-matched wild-type controls

♂ • the % of seminiferous tubules devoid of germ cells is highest at day 4 and day 9 post-partum, whereas germ cells are present in 80% of all tubule sections at day 7 post-partum

oligozoospermia ( J:232595 )

♂ • at 15 weeks of age, mean number of sperm cells per epididymis is significantly reduced

increased testis apoptosis ( J:232595 )

♂ • TUNEL analysis revealed that apoptosis in seminiferous tubules is significantly increased at day 9 post-partum, but not at day 4 post-partum or in adults, relative to wild-type controls

abnormal spermatogonia proliferation ( J:232595 )

♂ • the total number of spermatogonia per seminiferous tubule is significantly lower than that in wild-type controls, suggesting reduced spermatogonial proliferation