Phenotypes associated with this allele

• Allele Symbol: Tdrkh^tm1.2Hfl
• Allele Name: targeted mutation 1.2, Haifan Lin
• Allele ID: MGI:5521576
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tdrkh^tm1.2Hfl/Tdrkh^tm1.2Hfl	involves: 129S6/SvEvTac * C57BL/6J * FVB/N	MGI:5521579

Genotype
MGI:5521579

hm1

• Allelic Composition: Tdrkh^tm1.2Hfl/Tdrkh^tm1.2Hfl
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

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

reproductive system

azoospermia ( J:197673 )

♂ • no haploid spermatid

small testis ( J:197673 )

♂

testicular atrophy ( J:197673 )

♂ • atrophic and depleted of mature cells

arrest of male meiosis ( J:197673 )

♂ • arrested in zygotene stage

♂ • no pachytene spermatocytes

abnormal synaptonemal complex ( J:197673 )

♂ • major defects in forming synaptonemal complexes

male infertility ( J:197673 )

♂

cellular

azoospermia ( J:197673 )

♂ • no haploid spermatid

abnormal cell physiology ( J:197673 )

♂ • testes fail to exhibit suppression of Line1 retrotransposon expression unlike in wild-type mice

♂ • embryonic piRNA biogenesis is compromised compared to in wild-type embryos

♂ • pre-pachytene piRNA biogenesis in testes is impaired compared to in wild-type mice

♂ • however, secondary piRNA biogenesis is normal

abnormal DNA methylation ( J:197673 )

♂ • CpG hypomethylation at Line1 promoters in the testes

abnormal double-strand DNA break repair ( J:197673 )

♂ • massive double-strand break without apoptosis

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:197673 )

♂ • massive double-strand break without apoptosis

endocrine/exocrine glands

small testis ( J:197673 )

♂

testicular atrophy ( J:197673 )

♂ • atrophic and depleted of mature cells