| Primary Identifier | MGI:1861349 | Allele Type | Spontaneous |
| Gene | Tub | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| description | The phenotype associated with retinal degeneration in the tubby stock was referred to as a separate locus, rd5. rd5 was identified in the tubby stock but absent from the parental C57BL/6J stock. Based on the tight linkage of the two phenotypes and the molecular defect underlying the tub mutation, it seemed likely that tub and rd5 were the same gene. This was further supported by a knockout of the tub gene that recapitulated the retinal degeneration phenotype. |
| molecularNote | A G-to-T mutation of the first nucleotide of intron 11 eliminates exon 11 splice donor site G-GT by changing it to G-TT, leading to mis-splicing in the form of retention of intron 11. |
