Allele/Variant

Tg(Col2a1*G574S)1Waho

Species
Mus musculus
Symbol
Tg(Col2a1*G574S)1Waho
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
None
Description
A G to A change in exon 33 resulting in a glycine to serine substitution at amino acid 574 (Gly574Ser) was introduced slightly carboxy-terminal to the middle of the triple helical domain of the mouse type II collagen (Col2a1). This mutation was identified in a patient with the lethal human chondrodysplasia, hypochondrogenesis, and acts as a dominant negative.
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations