| Primary Identifier | MGI:6188327 | Allele Type | Chemically induced (ENU) |
| Gene | Abca12 | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | ENU mutagenesis induced a mutation in a 5' splice donor site in intron 29 that causes a thymine to guanine transversion at the second nucleotide of the downstream intron and converts the consensus donor sequence AGGT to AGGG. Analysis and sequencing of the transcript confirmed the deletion of exon 29. The skipping of exon 29 is predicted to result in an in-frame deletion of 73 amino acids resulting in a truncated protein lacking a critical part of the first ATP binding cassette beginning at amino acid 1388. |
