Dsg2^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Dsg2^m3Btlr
• Name: desmoglein 2; mutation 3, Bruce Beutler
• MGI ID: MGI:6283582
• Synonyms: dissolute
• Gene: Dsg2 Location: Chr18:20691247-20737583 bp, + strand Genetic Position: Chr18, 11.42 cM
• Alliance: Dsg2^m3Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to A transversion at base pair 20,595,951 (v38) on chromosome 18, or base pair 37,878 in the GenBank genomic region NC_000084 within intron 12 (9-base pairs upstream of exon 13 [out of 15 total exons]). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in exon 13. The mutation would cause a 2-base pair deletion of exon 13, causing a frame-shifted protein product beginning after amino acid 632 of the protein, which is normally 1,122 amino acids in length, and termination after the inclusion of 33 aberrant amino acids. (J:271977)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 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 Dsg2 Mutation: 84 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3737

References

• Original: J:271977 Turer E, et al., Mutagenetix entry for dissolute. MGI Direct Data Submission. 2019
• All: 1 reference(s)