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The autosomal dominant Arg141Trp (R141W) mutation found in a family with dilated cardiomyopathy was introduced into exon 9 followed by a floxed neo/zeo cassette via homologous recombination. The neo/zeo cassette was removed via cre-mediated recombination. Reverse transcription-PCR and sequencing of total cardiac RNA confirmed expression of mutant mRNA. (J:243725)
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
