Allele/Variant

Fkrptm1.1Pg

Species
Mus musculus
Symbol
Fkrptm1.1Pg
Category
allele
Allele of gene
Fkrp
Transgenic Constructs
None
Synonyms
  • FKRPL276I
Description
A leucine to isoleucine mutation at amino acid 276 was inserted into exon 3. In addition, a loxP site was inserted upstream of the exon, and a FRT-flanked neomycin selection cassette and second loxP site were inserted downstream of exon 3. Flp-mediated recombination removed the neomycin selection cassette. This is a common mutation found in Limb-girdle muscular dystrophy type 2I patients.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations