Henmt1^pin
Chemically induced Allele Detail

Summary

• Symbol: Henmt1^pin
• Name: HEN1 methyltransferase homolog 1 (Arabidopsis); pinhead
• MGI ID: MGI:5910969
• Synonyms: Henmt1^PIN
• Gene: Henmt1 Location: Chr3:108847375-108868090 bp, + strand Genetic Position: Chr3, 47.99 cM, cytoband G1
• Alliance: Henmt1^pin page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: The molecular lesion is a T-to-A substitution in the conserved GT splice donor site at the 5 end of intron 3. This results in the splicing out of exon 3 from transcripts and the in-frame deletion of 43 amino acids from the putative methyltransferase domain of the encoded protein in two of the three predicted splice variants. RNA-Seq data confirmed exon 3 deletion occurred in virtually all transcripts within homozygous mutant germ cells.
  
  Transcript 1 and 2 expression (ENSMUST00000059946 and ENSMUST00000098680) were reduced by 93% and 94% in mutant spermatoctyes and spermatids; transcript 3 (GRCm38/mm10), which does not contain exon 3, was up-regulated in mutant spermatocytes and round spermatids. Western blotting suggests that isoform 1 (49kDa) is predominant isoform present in the wild type mouse testis and the mutant testes contained no detectable encoded protein. (J:228973)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Henmt1 Mutation: 15 strains or lines available

References

• Original: J:228973 Lim SL, et al., HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse. PLoS Genet. 2015 Oct;11(10):e1005620
• All: 1 reference(s)