| Primary Identifier | MGI:5763763 | Allele Type | Chemically induced (ENU) |
| Gene | Kl | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | ENU mutagenesis induced a T to A transversion in exon 4 that results in the amino acid substitution of asparagine for isoleucine at position 604 (I604N). This mutation, located in the extracellular KL2 domain, is predicted to impair protein stability; in vitro expression analysis in COS-7 cells revealed endoplasmic reticulum retention of the mutant protein. |
