Dsg2^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Dsg2^m2Btlr
• Name: desmoglein 2; mutation 2, Bruce Beutler
• MGI ID: MGI:6283577
• Synonyms: dysjunction
• Gene: Dsg2 Location: Chr18:20691247-20737583 bp, + strand Genetic Position: Chr18, 11.42 cM
• Alliance: Dsg2^m2Btlr 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 20,582,939 (v38) on chromosome 18, or base pair 24,866 in the GenBank genomic region NC_000084 encoding Dsg2. The mutation corresponds to residue 1,057 in the mRNA sequence NM_007883 within exon 8 of 15 total exons. The mutation results in substitution of tyrosine 282 for a premature stop codon (Y282*) in the DSG2 protein. (J:271976)
• Inheritance: Other (see notes)

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

Inheritance is unknown/not applicable. https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3736

References

• Original: J:271976 Turer E, et al., Mutagenetix entry for Dysjunction. MGI Direct Data Submission. 2019
• All: 1 reference(s)