Gnptab^nym

This mutant was identified in an ENU screen based on its smaller size and ataxic gait. This mutation introduces a T to A substitution at nucleotide 2601 of the cDNA sequence that changes the tyrosine into a premature stop codon at position 867 of the protein sequence (Y867X) within an evolutionarily conserved spacer region 40 residues upstream of the cleavage signal between the alpha- and beta-subunits. The mutation corresponds to one identified in Mucolipidosis type II patients and leads to the production of a slightly truncated alpha-subunit retaining 95% of the wild-type equivalent and a complete lack of the beta-subunit. (J:218156)