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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rnf216em1Lijd
endonuclease-mediated mutation 1, Jia-Da Li
MGI:7294478
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rnf216em1Lijd/Rnf216em1Lijd involves: C57BL/6 MGI:7310028


Genotype
MGI:7310028
hm1
Allelic
Composition
Rnf216em1Lijd/Rnf216em1Lijd
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnf216em1Lijd mutation (0 available); any Rnf216 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• adult female mice are fertile and show normal ovary weight and uterus length and weight relative to wild-type females
• at 8 weeks of age, the number of germ cells per testicular cross section is significantly lower than in wild-type testes
• however, Sertoli cell numbers are normal
• at 8 weeks of age, male germ cell (spermatocyte) apoptosis is significantly increased in the seminiferous tubules, as shown by a TUNEL assay
• at 8 weeks of age, the diameters of seminiferous tubules are significantly smaller than in wild-type testes
• at 8 weeks of age, testes are significantly smaller than in wild-type males
• at 8 weeks of age, average testis weights are significantly lower than in wild-type males
• however, body weights are normal
• adult testes show significantly increased protein levels of PRKACB (protein kinase, cAMP dependent, catalytic, beta) and elevated PKA activity
• PRKACB protein and PKA activity are also significantly increased at 9 dpp
• seminiferous tubules contain normal germ cell numbers at 9 dpp but significantly fewer germ cells than wild-type tubules at 12 and 15 dpp, suggesting that prophase of meiosis I is impaired
• at 8 weeks of age, PAS and hematoxylin staining showed many dead pachytene spermatocytes at stage IV, suggesting impaired spermatogenesis at stage IV and abnormal progression from the zygotene to pachytene stage
• a few spermatids are still identified in testes at 8 weeks of age
• at 8 weeks of age, cauda epididymal sperm count is severely reduced relative to that in wild-type males
• at 8 weeks of age, the proportion of zygotene spermatocytes is significantly increased, whereas proportion of pachytene spermatocytes is significantly reduced
• however, the number of diplotene spermatocytes is not significantly altered
• meiosis I prophase is defective; spermatocytes are incompletely arrested at the zygotene stage and undergo apoptosis at approximately the pachytene stage
• increased PKA activity may, at least partly, contribute to disrupted meiosis
• at 8 weeks of age, almost no mature spermatozoa are found in the cauda epididymal lumens
• adult male mice are completely infertile

cellular
• at 8 weeks of age, the proportion of zygotene spermatocytes is significantly increased, whereas proportion of pachytene spermatocytes is significantly reduced
• however, the number of diplotene spermatocytes is not significantly altered
• at 8 weeks of age, the number of germ cells per testicular cross section is significantly lower than in wild-type testes
• however, Sertoli cell numbers are normal
• at 8 weeks of age, cauda epididymal sperm count is severely reduced relative to that in wild-type males
• meiosis I prophase is defective; spermatocytes are incompletely arrested at the zygotene stage and undergo apoptosis at approximately the pachytene stage
• increased PKA activity may, at least partly, contribute to disrupted meiosis
• at 8 weeks of age, male germ cell (spermatocyte) apoptosis is significantly increased in the seminiferous tubules, as shown by a TUNEL assay

homeostasis/metabolism
• PKA activity is significantly increased in testes from 8-week-old as well as 9 dpp males, as shown by phosphorylated PKA substrates

endocrine/exocrine glands
• at 8 weeks of age, the diameters of seminiferous tubules are significantly smaller than in wild-type testes
• at 8 weeks of age, testes are significantly smaller than in wild-type males
• at 8 weeks of age, average testis weights are significantly lower than in wild-type males
• however, body weights are normal
• adult testes show significantly increased protein levels of PRKACB (protein kinase, cAMP dependent, catalytic, beta) and elevated PKA activity
• PRKACB protein and PKA activity are also significantly increased at 9 dpp





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory