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Dsg2m1Btlr
Chemically induced Allele Detail
Summary
Symbol: Dsg2m1Btlr
Name: desmoglein 2; mutation 1, Bruce Beutler
MGI ID: MGI:6283557
Synonyms: weg
Gene: Dsg2  Location: Chr18:20691131-20737578 bp, + strand  Genetic Position: Chr18, 11.42 cM
Alliance: Dsg2m1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  79 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory