Log In|Sign Up
EN
A guanine to adenine transition at base 518 in exon 3 causes a change in codon 167 with the replacement of arginine by glutamine (R518Q) in the resulting protein. A floxed neomycin cassette was inserted in intron 2 as well. Transient transfection with a cre expressing vector resulted in excision of the neomycin selection cassette. (J:157369)
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
