Dysf^tm1.1Mdcb

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Species

Mus musculus

Symbol

Dysf^tm1.1Mdcb

Category

allele

Allele of gene

Dysf

Transgenic Constructs

None

Synonyms

• DYSF^L1360P
• MMex38

Description

A T to C mutation at position 4079 was introduced in exon 38 resulting in a leucine to proline substitution at amino acid 1360 (p.Leu1360Pro). A loxP flanked neomycin resistance cassette was inserted in intron 38 and was removed via cre-mediated recombination. This mutation is analogous to the human c.4022T>C (p.Leu1341Pro) variant causing LGMD2B. Western blot analysis of quadriceps muscle shows significantly reduced protein levels.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations