Thesis (M.A.)--University of Wisconsin--Madison, 1969. / eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references.

The expectation for a gene dose effect in an X-linked phenotype is that the corresponding metrical trait in heterozygous females will lie between values for affected hemizygous males and unaffected males and females. I made sequential measurements (at 30, 60, 90, 120 and 150 days) of serum phosphate concentration and tail length in mice with X-linked hypophosphatemia (mutant genotypes: Hyp/+, Hyp/Y and Hyp/Hyp) and in their normal littermates (genotypes: +/+ +/Y). I also measured renal mitochondrial 24-OHase activity in mice fed control and low phosphate diets and representing all five genotypes. I further studied serum AP activity and vertebral bone histomorphometry in the five genotypes. The mutant animals all had uniformly and significantly different values than unaffected littermates. There was no evidence of a gene dose effect because values were not significantly different among the three mutant genotypes. / I also studied the influence of gamete of origin on serum phosphate, tail length, renal mitochondrial 24-OHase activity, serum AP activity and vertebral bone histomorphometry in the Hyp/+ offspring of affected males (Hyp/Y) or affected females (Hyp/+ or Hyp/Hyp). I found no effect on the distribution of trait values. / I conclude that parental origin of the mutant allele does not explain the absence of a gene dose effect in Hyp mice.

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