Dync1h1^Swl

The molecular mutation is a 9-bp deletion in exon 12 of the gene, that affects residues 1040-1043 in the encoded protein. This mutation results in the change of four amino acids [glycine (GGC), isoleucine (ATA), valine (GTG), and threonine (ACT)] to an alanine (GCT) in the cargo-binding domain of the mature protein. RT-PCR analysis indicates that mRNA expression of this allele is not altered in mutant mice, and immunohistochemistry experiments in mutant embryos shows that no gross differences in the level or localization of the encoded protein is evident. (J:131126)