| Primary Identifier | MGI:3835422 | Allele Type | Chemically induced (ENU) |
| Gene | Dock8 | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6JSfdAnu | Is Recombinase | false |
| Is Wild Type | false | Project Collection | APF ENU Mutagenesis |
| molecularNote | This mutation was discovered in an ENU mutagenesis screen for mutations that do not interfere with the initial antibody response to an immunogen, but prevent its maturation and persistence. The mutation comprises a T to C transition that modifies the splice donor sequence of exon 20, resulting in aberrant mRNA splicing between cryptic splice donors and the normal exon 21 splice acceptor. cDNA sequence analysis has identified the abnormal splice products: frameshifted mRNAs containing premature translation stop codons that terminate the protein before the DOCK-homology region 2 (DHR2) domain. DHR2 is known to bind to G proteins of the Rho family, promoting GTP --> GDP exchange and initiating a variety of cellular responses. |
