t^w5

This t haplotype includes a mutation in Vps52, Vps52t-w5 that inserts 2 G nucleotides at the start of exon 2 in a stretch of consecutive G nucleotides (9 in the wild-type C57BL/6 sequence) resulting in a frameshift mutation that generates a premature termination codon. The mutation in Vsp52 is responsible for the embryonic lethal homozygous phenotype in this haplotype. (J:190873)