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A stop codon was created by a G to A mutation in exon 48 (W2711X) mimicking the most common myofibrillar myopathy-filaminopathy mutation in man. I addition a loxP site and FRT flanked neo cassette was inserted upstream of exon 47 and a loxP site was inserted the untranslated region of exon 48. Flp mediated recombination removed the neo cassette. RT-PCR analysis indicates mRNA levels are similar to wild-type. Protein levels are also similar to wild-type. (J:226976)
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
