Log In|Sign Up
EN
A substitution of alanine for valine (A8V) at position 8 was introduced in exon 1 in the N-helix and a loxP-flanked neomycin selection cassette was inserted in intron 1. Cre-mediated recombination removed the neo cassette. This a human hypertrophic cardiomyocyte-associated mutation. (J:274007)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
