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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cxxc1tm2.1Skk
targeted mutation 2.1, David G Skalnik
MGI:5752623
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Cxxc1tm2.1Skk/Cxxc1tm2.1Skk
Tg(Stra8-icre)1Reb/0
involves: FVB/NJ MGI:7507026


Genotype
MGI:7507026
cn1
Allelic
Composition
Cxxc1tm2.1Skk/Cxxc1tm2.1Skk
Tg(Stra8-icre)1Reb/0
Genetic
Background
involves: FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cxxc1tm2.1Skk mutation (0 available); any Cxxc1 mutation (28 available)
Tg(Stra8-icre)1Reb mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• at 11 weeks of age, seminal vesicles, prostate, vas deferens and epididymis appear normal
• number of spermatogonial cells is modestly increased
• marked depletion of germ cells starting at 3 weeks of age
• spermatogonia enter the first stage of the meiotic process but fail to form synapsed homologous chromosomes during pachynema
• relative number of normal synapsed chromosomes is significantly reduced
• significant increase of TUNEL+ male germ cells in the seminiferous tubules at 3 and 4 weeks, but not at 2 weeks, of age
• at 6 weeks of age, most seminiferous tubules contain only spermatogonia, few spermatocytes and spermatids, and Sertoli cells
• significant reduction in testis weight/body weight (g) at 6 and 11 weeks of age
• testis hypoplasia at 11 weeks of age
• although spermatogonia and spermatocytes are present at P18, only few or no spermatids are detected in the seminiferous tubules at 6 weeks of age
• no mature sperm are detected in the lumen of the epididymis at 6 weeks of age
• at 6 weeks of age, immunofluorescence with PNA (which labels the acrosomal cap of spermatids and spermatozoa) showed a small dot-like pattern, unlike the crescent-like pattern seen in control spermatids
• flow cytometric analysis showed that one chromatid per chromosome (1C)-containing germ cells (round spermatids) are markedly reduced (13.43% vs. 4.20% in controls), whereas 4C (meiocytes in prophase I) and 2C [spermatogonia and secondary spermatocytes (MII)] germ cells are not grossly altered
• pachynema, diplonema, and MII are significantly decreased
• Cenpa staining suggests that pachynemas showing incomplete centromere pairing are eliminated as their numbers at diplotene are reduced
• failure in prophase I of the first meiosis; complete meiotic arrest is due to reduced expression of meiotic genes and reduced homologous recombination process
• male mice fail to produce pups when mated with wild-type female mice for over 6 months

cellular
• at 6 weeks of age, immunofluorescence with PNA (which labels the acrosomal cap of spermatids and spermatozoa) showed a small dot-like pattern, unlike the crescent-like pattern seen in control spermatids
• number of spermatogonial cells is modestly increased
• marked depletion of germ cells starting at 3 weeks of age
• no mature sperm are detected in the lumen of the epididymis at 6 weeks of age
• spermatogonia enter the first stage of the meiotic process but fail to form synapsed homologous chromosomes during pachynema
• relative number of normal synapsed chromosomes is significantly reduced
• failure in prophase I of the first meiosis; complete meiotic arrest is due to reduced expression of meiotic genes and reduced homologous recombination process
• significant increase of TUNEL+ male germ cells in the seminiferous tubules at 3 and 4 weeks, but not at 2 weeks, of age
• H3K4me3 levels at transcription start sites (TSSs) and CpG islands (CGIs) are diminished in spermatocytes

endocrine/exocrine glands
• at 6 weeks of age, most seminiferous tubules contain only spermatogonia, few spermatocytes and spermatids, and Sertoli cells
• significant reduction in testis weight/body weight (g) at 6 and 11 weeks of age
• testis hypoplasia at 11 weeks of age





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