Sequence analysis comparisons of cDNA from livers of mice homozygous for this allele and +/+ mice showed a G to A transition at codon 355, changing it from tryptophan to a stop codon (p.W355*). Northern analysis showed absence of the most abundant mRNA of mouse galactocerebrosidase in mice homozygous for this allele. (J:31433)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count