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The murine alpha-myosin heavy chain promotor drives the cardiac-specific expression of the full-length 3.1 kb human nebulette cDNA containing the c.1775C>A substitution in exon 17 resulting in an alanine to glutamate change at codon 592 (A592E). This is one variant identified in patients with dilated cardiomyopathy and endocardial fibroelastosis. The pound symbol (#) is used when line is not specified and/or lines are pooled. (J:242962)
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
