Log In|Sign Up
EN
A frame shift mutation, c.1124_1127dupTGCC (p.Ala378Serfs), corresponding to the most prevalent mutation in familial limb-girdle myasthenia, was introduced into exon 7. In addition, a PGK-neo was inserted after exon 7. (J:213767)
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
