| Primary Identifier | MGI:1857715 | Allele Type | Spontaneous |
| Gene | Ap3b1 | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| description | Arose spontaneously as a remutation on the C57BL/6J strain at The Jackson Laboratory (J:52521). Homozygotes have an external phenotype similar to the original mutant Ap3b1pe (J:52521) |
| molecularNote | RT-PCR analysis revealed an 867-bp in-frame deletion in the 5' part of the transcript. This deletion is predicted to result in a deletion of 289 amino acids, corresponding to approximately one third of the normal protein product. The encoded protein was not detected by Western blotting of protein extracts derived from kidney of mutant mice. |
