| Primary Identifier | MGI:3823092 | Allele Type | Spontaneous |
| Attribute String | Null/knockout | Gene | Tpsab1 |
| Strain of Origin | multiple strains | Is Recombinase | false |
| Is Wild Type | false |
| description | This mutation is present in all non-outbred strains of black mice from Miss Lathrop's albino lineage (e.g. C57BL/6J, C57BL/10J, C57BL/6By, C58, C57L, C57Br/cd) (J:31582). |
| molecularNote | A G-to-A point mutation occurred at the exon 2/intron 2 splice site that resulted in the activation of a cryptic splice site. This caused a 98-bp deletion in the mature mRNA and introduced a premature stop codon. The truncated transcript was produced in mast cells but was quickly degraded before any detectable protein product could be made. This mutation was found to be present in all non-outbred strains of black mice from Miss Lathrop's albino lineage (e.g. C57BL/6, C57BL/10, C58, C57L, C57Br/cd) but not in BALB/c or 129 mouse strains. |
