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EN
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. (J:302056)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
