• PMID: 25342176
• Gene Name: RNF212
• Condition: Male meiotic failure, Male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male meiotic failure, Male infertility

An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility

Fujiwara Y, Matsumoto H, Akiyama K, Srivastava A, Chikushi M, Ann Handel M, Kunieda T.

The ENU-induced repro57 mutation was identified in an unbiased screen for the discovery of novel genes for fertility. Male repro57 homozygous mice are infertile and exhibit significantly reduced testis weight compared with WT mice. Histological examination of mutant testes revealed that spermatocytes degenerated during late prophase, and no mature spermatozoa were found in the seminiferous epithelium, suggesting that infertility is caused by the arrest of spermatogenesis at late meiotic prophase. Consistent with this hypothesis, the number of foci with MLH1, a protein essential for crossing over, is greatly reduced in repro57 mutant spermatocytes, which also lack chiasmata between homologs and exhibit premature dissociation of XY chromosomes. In repro57 mutant mice, we identified a mutation in the Rnf212 gene, encoding Ring finger protein 212. The overall phenotype of repro57 mice is consistent with the recently reported phenotype of the Rnf212 knockout mice; slight differences may be due to genetic background effects. Thus, the repro57 nonsense mutation provides a new allele of the mouse Rnf212 gene. CI - © 2015 Society for Reproduction and Fertility. FAU - Fujiwara, Yasuhiro AU - Fujiwara Y AD - Graduate School of Natural Science and TechnologyOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, JapanThe Jackson Laboratory600 Main Street, Bar Harbor, Maine 04609, USAGraduate School of Environmental and Life ScienceOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, Japan Graduate School of Natural Science and TechnologyOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, JapanThe Jackson Laboratory600 Main Street, Bar Harbor, Maine 04609, USAGraduate School of Environmental and Life ScienceOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, Japan. FAU - Matsumoto, Hirokazu AU - Matsumoto H AD - Graduate School of Natural Science and TechnologyOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, JapanThe Jackson Laboratory600 Main Street, Bar Harbor, Maine 04609, USAGraduate School of Environmental and Life ScienceOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, Japan. FAU - Akiyama, Kouyou AU - Akiyama K AD - Graduate School of Natural Science and TechnologyOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, JapanThe Jackson Laboratory600 Main Street, Bar Harbor, Maine 04609, USAGraduate School of Environmental and Life ScienceOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, Japan. FAU - Srivastava, Anuj AU - Srivastava A AD - Graduate School of Natural Science and TechnologyOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, JapanThe Jackson Laboratory600 Main Street, Bar Harbor, Maine 04609, USAGraduate School of Environmental and Life ScienceOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, Japan. FAU - Chikushi, Mizuho AU - Chikushi M AD - Graduate School of Natural Science and TechnologyOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, JapanThe Jackson Laboratory600 Main Street, Bar Harbor, Maine 04609, USAGraduate School of Environmental and Life ScienceOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, Japan. FAU - Ann Handel, Mary AU - Ann Handel M AD - Graduate School of Natural Science and TechnologyOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, JapanThe Jackson Laboratory600 Main Street, Bar Harbor, Maine 04609, USAGraduate School of Environmental and Life ScienceOkayama University, 1-1-1 Tsushima-naka, Kita-ku, Okayama 700-8530, Japan.