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The human ventricular myosin regulatory light chain with an asparagine to lysine substitution at amino acid 47 (N47K, a familial hypertrophic cardiomyopathy-linked mutation) is under the control of about 5.5 kb of the mouse alpha-myosin heavy chain promoter, including the first two exons and part of the third. Six lines (1,2,3,5,6,7) were generated, however the pound symbol (#) is used when the line is not specified or lines are pooled. (J:144685)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
