Fkrp^tm1.2Itl

Exon 3 was targeted with a point mutation changing residue 1343 in the coding region from C to T (c.1343C>T). This results in a P448L (p.Pro448Leu) substitution in the translated peptide. An FRT and loxP site flanked neomycin resistance gene cassette that was inserted into intron 2 was removed through flp-mediated recombination. This allele mimics a mutation found in human limb-girdle muscular dystrophy type 2I (LGMD2I) patients. (J:240736)