Napa^hyh

The G-to-A transition identified in exon 4 results in the substitution of the conserved methionine at amino acid residue 105 with an isoleucine (p.M105I). Transcript expression levels were normal as determined by Northern blot analysis. Presence of the mutation was confirmed by RT-PCR sequence analysis of mRNA from brain tissue. Western blot analysis indicated that the mutant protein is about 40% less abundant in homozygous mutant mice than is the normal protein in wild-type mice. (J:88183, J:156559)