Institut for Biomedicin

Thomas Vorup-Jensen

Breeding a PKU-mouse model on Phe-free diet, is it possible? Je li moguce uzgojiti model misa s fenilketornurijom na dijeti bez fenilalanine?

Publikation: KonferencebidragKonferenceabstrakt til konferenceForskning

The PKU-mouse model mutated in the PAH gene was developed in the 1990s in the laboratory of Dr. Alexandra Shedlovsky at the McArdle Laboratory for Cancer Research, University of Wisconsin. The mutation was generated by ENU (N-ethyl-N-nitrosourea) treatment of BTBR males. Several mutation was found in the PAH gene among which the enu2 (c.364T>C) was found to be the most relevant model. The Pahenu2 mutation predicts a radical phenylalanine to serine substitution within the active site of PAH, and is located in exon 7, a gene region where serious mutations are common in humans. The Pahenu2 mutation is therefore widely used model in PKU research. The Pahenu2 mutation has been transferred to the inbred C57BL/6 mouse strain. Breeding colonies on both inbred strains have been established at Aarhus University. Recently an attempt to breed homozygous animals on a Phe-free diet was attempted in order to reduce the number of surplus animals bred by heterozygous mothers. Preliminary data from this colony will be presented and as well as research implication of a model of maternal PKU.
OriginalsprogEngelsk
Udgivelsesår2014
StatusUdgivet - 2014

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