Log In|Sign Up
EN
An FRT-flanked pgk-neo cassette was inserted upstream of exon 6 and a copy of exon 6 with a G to A mutation at position 547 resulting in an G to R substitution at amino acid 182 was inserted via homologous recombination. Flp mediated recombination removed the pgk-neo cassette. The mutation in exon 6 is homologous to the most common type of COL3A1 disease-causing genetic variant in human Vascular Ehlers-Danlos syndrome patients. (J:330320)
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
