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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rpl39lem1Hqi
endonuclease-mediated mutation 1, Huayu Qi
MGI:6857773
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rpl39lem1Hqi/Rpl39lem1Hqi involves: C57BL/6J MGI:6858040


Genotype
MGI:6858040
hm1
Allelic
Composition
Rpl39lem1Hqi/Rpl39lem1Hqi
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl39lem1Hqi mutation (0 available); any Rpl39l mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• marker analysis indicates that the earliest self-renewing spermatogonial stem cells are not changed, whereas total spermatogonia are reduced
• slight increase in apoptotic cells in the testis, but no changes in Sertoli cells, suggesting that mainly germ cells are affected
• spermatocytes, round spermatids, and elongating spermatids show reduced mitochondrial membrane potential and cellular ATP content, indicating disrupted mitochondrial function during earlier spermatogenesis stages
• male gonads weigh about 1/3 less than in wild-type mice at 1 month of age
• mice show reduced spermatogenesis before meiosis starts, however spermatocytes can still complete meiosis
• while no differences in spermatogenic cells are seen at 1-week, post-meiotic spermatids (1N) are reduced at 4 weeks during the first wave of spermatogenesis and the number of SYCP3+ spermatocytes is reduced at 2 weeks and in adult mice
• however, no changes in the proportion of spermatocytes at meiosis I and II stages or during the prophase of meiosis I are seen, suggesting that meiotic progression is not affected
• decrease in PLZFLowcKIT+ differentiating spermatogonial stem cells
• testes treated with busulfan to apply chemotoxic insult show reduced regenerative spermatogenesis compared to wild-type testes
• numbers of sperm in the cauda epididymis (mature sperm) are reduced in adult males
• sperm morphology is abnormal and includes frequently bent heads
• sperm show disoriented outer dense fiber
• sperm show disorganized axoneme
• sperm contain malformed mitochondria sheath, containing hollow matrix and electron dense aggregates
• proliferation of spermatogonial cells is reduced
• PLZFLow spermatogonial stem cells, but not PLZFHigh spermatogonial stem cells, are reduced, indicating that proliferative spermatogonial stem cells are decreased when entering differentiation state
• PLZFLow spermatogonial stem cells contain decreased Ki67+ and increased Ki67- cells, indicating decreased proliferation
• males sire about 50% less frequently in a recorded period of 3 months, although the average number of pups in each litter is only slightly reduced
• cauda epididymal sperm show reduced mitochondrial membrane potential and cellular ATP content, indicating reduced mitochondrial function
• sperm are less motile

endocrine/exocrine glands
• slight increase in apoptotic cells in the testis, but no changes in Sertoli cells, suggesting that mainly germ cells are affected
• male gonads weigh about 1/3 less than in wild-type mice at 1 month of age

cellular
• numbers of sperm in the cauda epididymis (mature sperm) are reduced in adult males
• sperm morphology is abnormal and includes frequently bent heads
• sperm show disoriented outer dense fiber
• sperm show disorganized axoneme
• sperm contain malformed mitochondria sheath, containing hollow matrix and electron dense aggregates
• marker analysis indicates that the earliest self-renewing spermatogonial stem cells are not changed, whereas total spermatogonia are reduced
• slight increase in apoptotic cells in the testis, but no changes in Sertoli cells, suggesting that mainly germ cells are affected
• sperm are less motile
• proliferation of spermatogonial cells is reduced
• PLZFLow spermatogonial stem cells, but not PLZFHigh spermatogonial stem cells, are reduced, indicating that proliferative spermatogonial stem cells are decreased when entering differentiation state
• PLZFLow spermatogonial stem cells contain decreased Ki67+ and increased Ki67- cells, indicating decreased proliferation
• spermatocytes, round spermatids, and elongating spermatids show reduced mitochondrial membrane potential and cellular ATP content, indicating disrupted mitochondrial function during earlier spermatogenesis stages
• testicular cells contain about 10% higher levels of reactive oxygen species than wild-type cells





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory