Fkrp^tm1Itl

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Species

Mus musculus

Symbol

Fkrp^tm1Itl

Category

allele

Allele of gene

Fkrp

Transgenic Constructs

None

Synonyms

• FKRP-neo-P448L
• Fkrp^tm1Igl

Show All 3

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations