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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hellstm1d(EUCOMM)Wtsi
targeted mutation 1d, Wellcome Trust Sanger Institute
MGI:6389563
Summary 1 genotype


Genotype
MGI:6389564
cn1
Allelic
Composition
Hellstm1c(EUCOMM)Wtsi/Hellstm1d(EUCOMM)Wtsi
Tg(Stra8-icre)1Reb/0
Genetic
Background
(B6(Cg)-Hellstm1c(EUCOMM)Wtsi/BakrJ x B6.Cg-Hellstm1d(EUCOMM)Wtsi Tg(Stra8-icre)1Reb/Bakr)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hellstm1c(EUCOMM)Wtsi mutation (1 available); any Hells mutation (58 available)
Hellstm1d(EUCOMM)Wtsi mutation (0 available); any Hells mutation (58 available)
Tg(Stra8-icre)1Reb mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• Incomplete DNA repair at double stranded breaks in pachytene spermatocytes and the genomic locations of the double stranded breaks is abnormal
• arrest at the late-zygotene to early pachytene stage, with an increased proportion of leptotene and zygotene and absence of normal pachytene and diplotene spermatocytes, with the pachytene cells having H2AX phosphorylation and incomplete synapsis
• At 12 days of age spermatocytes show a decrease in epigenomic modification at recombination hotspots, H3K4me3 and chromatin accessibility sites at recombination hotspots are decreased

endocrine/exocrine glands

reproductive system
• Incomplete DNA repair at double stranded breaks in pachytene spermatocytes and the genomic locations of the double stranded breaks is abnormal
• arrest at the late-zygotene to early pachytene stage, with an increased proportion of leptotene and zygotene and absence of normal pachytene and diplotene spermatocytes, with the pachytene cells having H2AX phosphorylation and incomplete synapsis
• At 12 days of age spermatocytes show a decrease in epigenomic modification at recombination hotspots, H3K4me3 and chromatin accessibility sites at recombination hotspots are decreased
• these males fail to sire offspring





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory