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CRISPR/Cas9 technology generated a T to G change resulting in a serine to alanine substitution at amino acid 637 (S637A) in the RS (arginine-serine) domain. Western blot analysis shows that phosphorylation at this site is dramatically reduced in heterozygotes and almost undetectable in homozygous mice and also that protein level is elevated in both heterozygotes and homozygotes compared to levels in wild-type mice. This corresponds to the human S635A mutation identified in patients with dilated cardiomyopathy. (J:324125)
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
