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Merkle, S. ; Pretsch, W.

Characterization of triosephosphate isomerase mutants with reduced enzyme activity in Mus musculus.

Genetics 123, 837-844 (1989)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Four heterozygous triosephosphate isomerase (TPI) mutants the approximately 50% reduced activity in blood compared to wild type were detected in offspring of 1-ethyl-1-nitrosourea treated male mice Breeding experiments displayed an autosomal, dominant mode of inheritance for the mutations. All mutations were found to be homozygous lethal at an early postimplantation stage of embryonic development, probably due to a total lack of TPI activity and consequently to the inability to utilize glucose as a source of metabolic energy. Although activity alteration was also found in liver, lung, kidney, spleen, heart, brain and muscle the TPI deficiency in heterozygotes has no influence on the following physiological traits: hematological parameters, plasma glucose, glucose consumption of blood cells, body weight and organo-somatic indices of liver, spleen, heart, kidney and lung. Biochemical investigations of TPI in the four mutant lines indicated no difference of physicochemical properties compared to the wild type. Results from immunoinactivation assays indicate that the decrease of enzyme activity corresponds to a decrease in the level of an immunologically active moiety. It is suggested that the mutations have affected the Tpi-1 structural locus and resulted in alleles which produce no detectable enzyme activity and no immunologically cross-reacting material. The study furthermore suggests one functional TPI gene per haploid genome in the erythrocyte and seven other tested organs of the mouse.
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Publication type Article: Journal article
Document type Scientific Article
ISSN (print) / ISBN 0016-6731
e-ISSN 0016-6731
Journal Genetics
Quellenangaben Volume: 123, Issue: 4, Pages: 837-844 Article Number: , Supplement: ,
Publisher Genetics Society of America
Reviewing status Peer reviewed
Institute(s) Institut für Säugetiergenetik