Gja8^L1

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. (J:108522)