Hps3^coa-Btlr

This mutation, discovered among G3 progeny of an ENU-mutagenized male mouse, was mapped to Chromosome 3 and identified as a T-to-A transversion at nucleotide position 1815 of the gene, in the tenth of 17 total exons. It is predicted to truncate the protein after amino acid 599; if this abbreviated protein is expressed, it would retain the clathrin-binding domain and the majority of the tyrosine-based intracellular sorting signals. (J:137495)