| Primary Identifier | MGI:3774321 | Allele Type | Chemically induced (ENU) |
| Attribute String | Altered localization | Gene | Gja8 |
| Inheritance Mode | Dominant | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | The L1 mutation was discovered in a cataract screen of G1 progeny of ENU-treated male mice and mapped to Chromosome 3. It corresponds to a T-to-C transition at nt position 148 (counting as nt 1 the A of the initiation codon; the substitution is at nt 219 of Genbank Accession NM_008123), in the second of two total exons the first of which encodes the majority of the 5' untranslated region. The mutation replaces a highly-conserved hydrophilic serine at amino acid position 50, in the first extracellular loop (E1 domain) of the protein, with a hydrophobic proline (S50P). The mutant protein is expressed in the embryonic and adult eye lens. |
