Mutant mice show defects in cartilage development and recessive peri-natal lethality and orofacial clefting. The ENU induced mutation has a G to A transition at Chromosome 15:97815207, which causes a premature stop codon at amino acid 645, and an A to T transversion at Chromosome 15:97825743, in intron 12 that could potentially act as a cryptic splice site but RT-PCR did not reveal splicing abnormalities.
|Allele Name||mutation 2 Jackson|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Col2a1, collagen, type II, alpha 1|
|Strain of Origin||C57BL/6J|
|Molecular Note||This ENU induced mutation is a G-to-A transition at chromosome 15:97,984,776 (GRCm38), which causes a premature stop codon at amino acid 645, and an A-to-T transversion at chromosome 15:97,825,743, in intron 12 that could potentially act as a cryptic splice acceptor site, though RT-PCR did not reveal splicing abnormalities.|