| Primary Identifier | MGI:4838032 | Allele Type | Chemically induced (ENU) |
| Gene | Col4a4 | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false | Project Collection | Beutler Mutagenetix |
| molecularNote | The mutation has been identified as a G to A transition that impairs the donor splice site of intron 8. Reverse transcription of mRNA followed by PCR amplification revealed a deletion of 8 nucleotides in the transcript, resulting in a frame-shift that causes the addition after amino acid 176 of 13 aberrant amino acids followed by a premature termination codon. |
