Phenotypes Associated with This Genotype

Genotype
MGI:4422098

• Allelic Composition: Tdrd9^tm1.1Chum/Tdrd9^tm1.1Chum
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

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

reproductive system

abnormal male germ cell morphology ( J:156018 )

♂

azoospermia ( J:156018 )

♂ • no sperm in epidydimides

abnormal spermatocyte morphology ( J:156018 )

♂ • mutant spermatocytes show degeneration

♂ • intracellular disorganization and vacuolation in spermatocytes

♂ • spermatocytes frequently contain cytoplasmic aggregates containing LINE-1 open reading frame1 protein (ORF1p)

♂ • abnormal accumulation of OFR1p in the nuclei of spermatocytes

abnormal spermatogonia morphology ( J:156018 )

♂ • highly accumulated ORF1p in cytoplasmic of the prospermatogonia in mutant fetal testes

arrest of male meiosis ( J:156018 )

♂ • absent haploid spermatids in the mutant testis

♂ • fragmentary and impaired formation of central elements by synaptonemal complex protein 1 (SYCP1)

♂ • spermatogenesis is blocked at the zygotene stage due to chromosome synapsis failure

abnormal synaptonemal complex ( J:156018 )

• spermatogenesis is blocked at the zygotene stage due to chromosome synapsis failure

increased male germ cell apoptosis ( J:156018 )

♂ • increased apoptosis in spermatocytes

abnormal DNA methylation during gametogenesis ( J:156018 )

• demethylation of Long Interspersed Element-1 (LINE-1) in mutant testis at postnatal day 3 to 4 (P3-4), P12 and P25

• highly demethylated Line-1 promoter region compared to controls (1.4% compared to 92.2%)

• substantially demethylated paternally methylated RAS protein-specific guanine nucleotide-releasing factor 1 (Rasgrf1, 7.6% compared to 95.3%)

small testis ( J:156018 )

♂ • small testis at 2 months of age

decreased testis weight ( J:156018 )

♂ • lower testis weight at 2 months of age

male infertility ( J:156018 )

♂ • male-specific sterile

endocrine/exocrine glands

small testis ( J:156018 )

♂ • small testis at 2 months of age

decreased testis weight ( J:156018 )

♂ • lower testis weight at 2 months of age

cellular

abnormal male germ cell morphology ( J:156018 )

♂

azoospermia ( J:156018 )

♂ • no sperm in epidydimides

abnormal spermatocyte morphology ( J:156018 )

♂ • mutant spermatocytes show degeneration

♂ • intracellular disorganization and vacuolation in spermatocytes

♂ • spermatocytes frequently contain cytoplasmic aggregates containing LINE-1 open reading frame1 protein (ORF1p)

♂ • abnormal accumulation of OFR1p in the nuclei of spermatocytes

abnormal spermatogonia morphology ( J:156018 )

♂ • highly accumulated ORF1p in cytoplasmic of the prospermatogonia in mutant fetal testes

arrest of male meiosis ( J:156018 )

♂ • absent haploid spermatids in the mutant testis

♂ • fragmentary and impaired formation of central elements by synaptonemal complex protein 1 (SYCP1)

♂ • spermatogenesis is blocked at the zygotene stage due to chromosome synapsis failure

abnormal synaptonemal complex ( J:156018 )

• spermatogenesis is blocked at the zygotene stage due to chromosome synapsis failure

increased male germ cell apoptosis ( J:156018 )

♂ • increased apoptosis in spermatocytes

abnormal DNA methylation during gametogenesis ( J:156018 )

• demethylation of Long Interspersed Element-1 (LINE-1) in mutant testis at postnatal day 3 to 4 (P3-4), P12 and P25

• highly demethylated Line-1 promoter region compared to controls (1.4% compared to 92.2%)

• substantially demethylated paternally methylated RAS protein-specific guanine nucleotide-releasing factor 1 (Rasgrf1, 7.6% compared to 95.3%)