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The p.Y329S mutation (TAC to TCC change) was knocked into exon 7 and FRT sites were introduced upstream and downstream of exon 7 via homologous recombination. The loxP-flanked PGK-neomycin cassette inserted downstream of exon 7 but before the FRT site was removed via cre-mediated recombination. Western blot analysis indicates a significant reduction of protein in muscle. (J:226481)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
