Dnmt3c^m1Dhbh
Spontaneous Allele Detail

Summary

• Symbol: Dnmt3c^m1Dhbh
• Name: DNA methyltransferase 3C; mutation 1, Deborah Bourchis
• MGI ID: MGI:7439786
• Synonyms: Dnmt3c^IAP
• Gene: Dnmt3c Location: Chr2:153538572-153571827 bp, + strand Genetic Position: Chr2, Syntenic
• Alliance: Dnmt3c^m1Dhbh page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Transposon insertion
• Mutation details: Whole genome sequencing identified an insertion of an IAPEz element, a subclass of the intracisternal-A particle retrotransposon in the last intron of the gene. The insertion creates an alternative splice site that results in tha last exon being skipped in favor of the retrotransposon and expression of a fusion transcript. The mutant protein fails to increase CpG methylation levels in vitro. (J:237199)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:

2 RNA-Seq or microarray experiment(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 Dnmt3c Mutation: 13 strains or lines available

References

• Original: J:237199 Barau J, et al., The DNA methyltransferase DNMT3C protects male germ cells from transposon activity. Science. 2016 Nov 18;354(6314):909-912
• All: 1 reference(s)