Log In|Sign Up
EN
CRISPR/Cas9 technology generated a C to T change resulting in a threonine to methionine substitution at amino acid 105 (p.T105M) in exon 6. Two synonymous mutations, p.S106 (AGC to TCA) and p.S110 (AGC to TCG) were introduced to prevent the binding and recutting of the sequence by gRNA. This is a Charcot-Marie-Tooth disease type 2A-associated mutation. (J:342938)
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
