Dsg2^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Dsg2^m1Btlr
• Name: desmoglein 2; mutation 1, Bruce Beutler
• MGI ID: MGI:6283557
• Synonyms: weg
• Gene: Dsg2 Location: Chr18:20691247-20737583 bp, + strand Genetic Position: Chr18, 11.42 cM
• Alliance: Dsg2^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to A transversion at base pair 20,580,651 (v38) on chromosome 18, or base pair 22,578 in the GenBank genomic region NC_000084 encoding DSG2. The mutation corresponds to residue 889 in the mRNA sequence NM_007883 within exon 6 of 15 total exons. The mutation results in substitution of tyrosine 226 for a premature stop codon (Y226*) in the DSG2 protein. (J:271975)
• 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: 80 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=2959

References

• Original: J:271975 Turer E, et al., Mutagenetix entry for weg. MGI Direct Data Submission. 2019
• All: 1 reference(s)