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CRISPR/Cas9 technology generated a T to G change at position 38 (c.T38>G) resulting in a leucine to arginine substitution at codon 13 (p.L13R). A silent mutation (c.G24>A) was also engineered to prevent recutting after editing. This is a variant found in patients with cardiomyopathy. RT-qPCR showed reduced mRNA levels and Western blot analysis showed that protein levels of both isoforms are reduced and that both isoforms display a greater size. (J:331716)
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
