Allele/Variant

Flnctm1.1Rsdf

Species
Mus musculus
Symbol
Flnctm1.1Rsdf
Category
allele
Allele of gene
Flnc
Transgenic Constructs
None
Synonyms
None
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Disease Associations