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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ppp2r1btm1.2Yxy
targeted mutation 1.2, Yuxin Yin
MGI:7788353
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ppp2r1btm1.2Yxy/Ppp2r1btm1.2Yxy involves: 129S6/SvEvTac * C57BL/6J MGI:7788407


Genotype
MGI:7788407
hm1
Allelic
Composition
Ppp2r1btm1.2Yxy/Ppp2r1btm1.2Yxy
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp2r1btm1.2Yxy mutation (0 available); any Ppp2r1b mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• no sperm are detected in the caudal epididymis
• epididymis shows only a few round-shaped cells with large nuclei that are likely immature spermatids and no mature spermatozoa
• seminiferous tubules exhibit non-obstructive azoospermia characterized by primary spermatocytes and few abnormal haploid cells
• spermatocytes from metaphase spreads frequently show univalents at metaphase I, indicating compromised crossover formation in spermatocytes
• marker analysis indicates impaired meiotic recombination
• testes predominantly contains diploid and tetraploid cells, with a few haploid cells compared to predominantly haploid cells in wild-type testes, indicating meiotic arrest
• tubules show an accumulation of primary spermatocytes and contain no round spermatids at 20 postnatal days and no elongating spermatids are seen in testes at 30 postnatal days and instead an accumulation of primary spermatocytes, in particular those in pachynema, are seen
• the diplotene and diakinesis stages of prophase I are almost lost, indicating meiotic arrest at the pachytene stage
• an average of 30% of spermatocytes are apoptotic in testes compared to 6% in wild-type and an average of 9.3 apoptotic cells per tubule occurs in testes compared to approximately 1.5 for wild-type
• males mated with wild-type females produce no litters
• however, no histologic differences in spermatogonia, Sertoli cells or interstitial tissues of testis

endocrine/exocrine glands

cellular
• no sperm are detected in the caudal epididymis
• epididymis shows only a few round-shaped cells with large nuclei that are likely immature spermatids and no mature spermatozoa
• seminiferous tubules exhibit non-obstructive azoospermia characterized by primary spermatocytes and few abnormal haploid cells
• spermatocytes from metaphase spreads frequently show univalents at metaphase I, indicating compromised crossover formation in spermatocytes
• marker analysis indicates impaired meiotic recombination
• testes predominantly contains diploid and tetraploid cells, with a few haploid cells compared to predominantly haploid cells in wild-type testes, indicating meiotic arrest
• tubules show an accumulation of primary spermatocytes and contain no round spermatids at 20 postnatal days and no elongating spermatids are seen in testes at 30 postnatal days and instead an accumulation of primary spermatocytes, in particular those in pachynema, are seen
• the diplotene and diakinesis stages of prophase I are almost lost, indicating meiotic arrest at the pachytene stage
• an average of 30% of spermatocytes are apoptotic in testes compared to 6% in wild-type and an average of 9.3 apoptotic cells per tubule occurs in testes compared to approximately 1.5 for wild-type





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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
12/17/2024
MGI 6.24
The Jackson Laboratory