A second locus encoding elevated phosphoglycerate mutase activity (Pgam2e) maps to mouse chromosome 4

Recently, we described the ethylnitrosourea(ENU)-induced mutation PGAM12601 causing a 300-400% PGAM activity elevation in blood compared with wild-type animals; segregation analysis localized the corresponding gene Pgam1e to the medial region of Chr 19. Peters and Ball described an ENU-induced mutation, pge, with 25 to 30-fold higher erythrocyte PGAM activity. Homozygotes are fully viable and fertile. This regulatory locus is not linked to ru or ep on Chr 19, indicating that there exists at least one additional locus for elevated PGAM activity. A mouse mutant (PGAM46) with elevated PGAM activity was recovered in the offspring of an irradiated male mouse. From the present linkage data, we designate the mutation Pgam2e super(1Neu). The mutation causes PGAM activity elevation to 244 plus or minus 27% (n = 30) in blood of heterozygotes as compared with wild-type animals at weaning. The increased PGAM activity has not been observed in liver, lung, kidneys, spleen, heart, or brain of heterozygotes; the enzyme shows no significant heat stability alteration in blood at 64 degree C. Other than the enzyme activity effects, there were no detectable visible phenotypes associated with Pgam2e in heterozygotes. (DBO)