| Primary Identifier | MGI:3628822 | Allele Type | Chemically induced (ENU) |
| Gene | Unc13d | Inheritance Mode | Codominant |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| description | The mutation was identified as a result of immunocompromise observed in progeny of ENU-mutagenized mice during infection with mouse cytomegalovirus (MCMV). |
| molecularNote | A G to T transversion at position 4538 downstream from the distal end of exon 26 creats a new donor spice site which is used to the complete exclusion of the normal donor site. As a result, 53 additional intronic nucleotides are incorporated into the resulting mRNA. This results in 20 aberrant amino acids followed by premature termination due to an in-frame TGA codon after amino acid 859. This eliminates the second C2 domain and part of the second MHD. |
