This t haplotype includes a mutation in Vps52, Vps52t-w5+Art that inserts a third G nucleotide, in addition to the 2 inserted in Vps52t-w5, at the start of exon 2 in a stretch of consecutive G nucleotides (9 in the wild-type C57BL/6 sequence, 11 in Vps52t-w5). The insertion of an additional G nucleotide restores the reading frame of Vps52 back to the wild-type frame. (J:190873)
Basic Information
Nucleotide repeat expansion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count