Log In|Sign Up
EN
RNA sequencing and genome capture sequencing identified a gain-of function missense mutation consisting of a T-to-A transversion causing a cysteine to serine amino acid change (C33S) in the procollagen III amino terminal propeptide segment (PIIINP) of Col3a1. Western blot analysis indicates an increase in protein in the skin of heterozygotes. (J:215227)
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
