Genetics Research · 1981 · 16 citations · 9 references
Life SciencesGeneticsMolecular GeneticsBiochemical GeneticsCellular MetabolismMetabolismEnergy MetabolismRenal PhysiologyMutationPyruvate Kinase DeficiencyPyruvate MetabolismSingle-gene InheritanceSingle-gene Mutations
SUMMARY Pyruvate kinase activity was studied in kidney extracts of mice from various sources. One C57BL/6J female among several hundred examined expressed activity approximately one half of the normal level. This animal transmitted the trait, and a single gene responsible for the activity difference was identified and mapped to chromosome 9. Linkage with Mod-1 and dilute was established. A spontaneous mutation in the C57BL/6J strain apparently was responsible for the variant pyruvate kinase.
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Conservation of autosomal gene synteny groups in mouse and man
P.A. Lalley, John D. Minna, Uta Francke · Nature · 1978 · 114 citations