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The Journal of Heredity 1981:72(4):234-237
© 1981 The American Genetic Association 72:234-237


research-article

Dactylaplasia in mice

A two-locus model for developmental anomalies

C. K. Chai

Jackson Laboratory Bar Harbor, Maine 04609.

Abstract

Dactylaplasia, characterized by the absence of phalangal bones in the middle digits of each foot, resulted from a mutation that occurred in the SM7B/SM inbred strain of mice. Breeding tests revealed the mutant gene is an autosomal dominant that is homo-zygous lethal. Further investigation by outcrossing with a number of inbred strains showed that the manifestation of the mutant gene is controlled by another locus. At this locus are found two alleles: one, a dominant inhibiting dactylaplasia gene expression; the other, a recessive allowing the expression of the mutant gene. In each of the tested inbred strains, one or the other allele is present at this locus. We propose Dac as a symbol for the mutant gene, and mdac for the locus controlling the Dac expression. Mouse dactylaplasia closely resembles split hand/foot in man and in monkeys in gross morphology and mode of inheritance. The significance of the present findings explainable by a two-locus model is discussed relative to irregular mode of inheritance of certain other congenital defects, and also relative to the maintenance of genetic loads in populations.


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