reproductive system
azoospermia
(
J:156018
)
|
• no sperm in epidydimides
|
|
• 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
|
|
• highly accumulated ORF1p in cytoplasmic of the prospermatogonia in mutant fetal testes
|
|
• 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
|
• spermatogenesis is blocked at the zygotene stage due to chromosome synapsis failure
|
|
• increased apoptosis in spermatocytes
|
• 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
|
|
• lower testis weight at 2 months of age
|
|
• male-specific sterile
|
endocrine/exocrine glands
small testis
(
J:156018
)
|
• small testis at 2 months of age
|
|
• lower testis weight at 2 months of age
|
cellular
azoospermia
(
J:156018
)
|
• no sperm in epidydimides
|
|
• 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
|
|
• highly accumulated ORF1p in cytoplasmic of the prospermatogonia in mutant fetal testes
|
|
• 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
|
• spermatogenesis is blocked at the zygotene stage due to chromosome synapsis failure
|
|
• increased apoptosis in spermatocytes
|
• 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%)
|