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Phenotypes Associated with This Genotype
Genotype
MGI:2655820
Allelic
Composition
Pafah1b2tm1Arai/Pafah1b2tm1Arai
Pafah1b3tm1Arai/Pafah1b3tm1Arai
Genetic
Background
involves: 129X1/SvJ * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pafah1b2tm1Arai mutation (0 available); any Pafah1b2 mutation (20 available)
Pafah1b3tm1Arai mutation (0 available); any Pafah1b3 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• at 5 weeks of age, some double mutant germ cells appear to be detached from the Sertoli cells
• at 5 weeks of age, double mutant males show a significant reduction of spermatogenic cells, especially after the pachytene spermatocyte stage; round spermatids are significantly reduced in number, while elongated spermatids are rare
• at later ages, early germ cell stages are more severely affected, leading to pronounced depletion of spermatocytes and spermatogonia
• no spermatozoa are detected in the epididymis at 5 weeks of age
• at 5 weeks of age, double mutant testes display increased apoptosis of spermatogenic cells, as shown by TUNEL staining
• the majority of cells undergoing apoptosis are spermatocytes
• at 5 weeks of age, double mutant males show a ~50% reduction in seminiferous tubule diameter relative to wild-type males
• at 5 weeks of age, double mutant testes weigh ~65% less than those of wild-type mice
• double mutant males exhibit defects in several aspects of spermatogenesis, including severe degeneration of primary spermatocytes as well as degeneration of meiotically dividing spermatocytes and elongating spermatids
• at 5 weeks of age, the few remaining spermatids exhibit deformed nuclei
• double mutant males are infertile
• in contrast, double mutant females are fertile

endocrine/exocrine glands
• at 5 weeks of age, double mutant males show a ~50% reduction in seminiferous tubule diameter relative to wild-type males
• at 5 weeks of age, double mutant testes weigh ~65% less than those of wild-type mice

cellular
• at 5 weeks of age, some double mutant germ cells appear to be detached from the Sertoli cells
• at 5 weeks of age, the few remaining spermatids exhibit deformed nuclei
• at 5 weeks of age, double mutant males show a significant reduction of spermatogenic cells, especially after the pachytene spermatocyte stage; round spermatids are significantly reduced in number, while elongated spermatids are rare
• at later ages, early germ cell stages are more severely affected, leading to pronounced depletion of spermatocytes and spermatogonia
• no spermatozoa are detected in the epididymis at 5 weeks of age
• at 5 weeks of age, double mutant testes display increased apoptosis of spermatogenic cells, as shown by TUNEL staining
• the majority of cells undergoing apoptosis are spermatocytes


Contributing Projects:
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
04/16/2024
MGI 6.23
The Jackson Laboratory