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CRISPR/Cas9 technology generated a T to C change at position 1613 (c.T1613C) resulting in an isoleucine to threonine substitution at amino acid 536 (p.I538T). This corresponds to the human c.T1607C (p.I536T) variant that was identified in two patients with sudden death without apparent dilated cardiomyopathy. (J:335127)
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
