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The human cardiac myosin essential light chain containing a glutamate to lysine change at amino acid 143 (E143K) is under the control of the cardiac specific alpha-MHC promoter. This mutation has been associated with restrictive cardiomyopathy in humans. Line 2 expresses about 55% of human essential light chain replacing the endogenous mouse cardiac essential light chain. (J:258831)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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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References Literature
Title
PMID
Journal
Year
IF
