Col3a1^Tsk2

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Species

Mus musculus

Symbol

Col3a1^Tsk2

Category

allele

Allele of gene

Col3a1

Transgenic Constructs

None

Synonyms

None

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations