Primary Identifier | MGI:7261448 | Allele Type | Transgenic |
Attribute String | Dominant negative, Humanized sequence, Inserted expressed sequence | Gene | Tg(Col2a1*G574S)1Waho |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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. |