| Primary Identifier | MGI:6690860 | Allele Type | Chemically induced (ENU) |
| Attribute String | Modified isoform(s) | Gene | Eml1 |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | This ENU-induced T-to-A transversion in exon 18 changes tyrosine codon 652 (TAT) to a stop codon (TAA) (p.Tyr652*). This premature stop codon leads to the truncation of much of the C-terminal propeller domain in the encoded peptide. RT-qPCR of retina shows a significant decrease in the short splice variants, but the long splice variant does not appear to undergo nonsense mediated decay. |
