Log In|Sign Up
EN
A G to T change a position 563 (c.563G>T) resulting in a glycine to valine substitution at codon 188 (p.G188V) was introduced in exon 3 along with a floxed neomycin resistance cassette downstream of exon 3. The neomycin resistance cassette was removed via cre-mediated recombination. This is a missense mutation identified in a patient with Loeys-Dietz syndrome showing severe periodontitis. (J:325431)
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
