| Primary Identifier | MGI:4834518 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Fkrp |
| Transmission | Germline | Strain of Origin | (C57BL/6NTac x 129S6/SvEvTac)F1 |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | 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 cre-mediated recombination. This allele mimics a mutation found in certain human congenital muscular dystrophies (MDC1C) patients. In mice carrying this allele, muscle and heart cells lack glycosylation of alpha-dystroglycan. |
