| Primary Identifier | MGI:3051587 | Allele Type | Chemically induced (ENU) |
| Attribute String | Hypomorph | Gene | Alpl |
| Inheritance Mode | Dominant | Strain of Origin | BALB/cAnN |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | The mutation involves a G to A transition in the donor (consensus) splice site of exon 8 (-5bp into the intron), i.e. 862+5G>A. RT-PCR analysis, using RNA derived from liver and kidney, indicates that the mutation affects splicing. A mutant transcript that lacks exon 8 is predicted to introduce an early stop codon, resulting in a truncated (inactive) protein. However, RT-PCR results indicate that a small amount of normal splicing also occurs in homozygous offspring, suggesting that it is a hypomorphic mutation. |
