Log In|Sign Up
EN
Threonine codon 115 (ACC) in exon 3 was changed to asparagine (AAC)(p.T115N) and a loxP site was inserted into intron 2 and an FRT site flanked neomycin resistance gene cassette and a second loxP site into intron 3. The neo cassette was removed through subsequent flp-mediated recombination. The mutation mimics the human mutation associated with CharcotMarieTooth disease type 1C (CMT1C). (J:314784)
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
