Abstract
The sparse fur with abnormal skin and hair (Spf-ash) mouse is a model for the human x-linked hereditary disorder, ornithine transcarbamylase (OTC) deficiency. In Spf-ash mice, both OTC mRNA and enzyme activity are 5% of control values resulting in hyperammonemia, pronounced orotic aciduria and an abnormal phenotype characterized by growth retardation and sparse fur. Using microinjection, the authors introduced a construction containing rat OTC cDNA linked to the SV40 early promoter into fertilized eggs of Spf-ash mice. The expression of the transgene resulted in the development of a transgenic mouse whose phenotype and orotic acid excretion are fully normalized. Thus, the possibility of correcting hereditary enzymatic defect by gene transfer of heterologous cDNA coding for the normal enzyme has been demonstrated.
Citation Formats
Cavard, C, Grimber, G, Dubois, N, Chasse, J F, Bennoun, M, Minet-Thuriaux, M, Kamoun, P, and Briand, P.
Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line.
United Kingdom: N. p.,
1988.
Web.
doi:10.1093/nar/16.5.2099.
Cavard, C, Grimber, G, Dubois, N, Chasse, J F, Bennoun, M, Minet-Thuriaux, M, Kamoun, P, & Briand, P.
Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line.
United Kingdom.
https://doi.org/10.1093/nar/16.5.2099
Cavard, C, Grimber, G, Dubois, N, Chasse, J F, Bennoun, M, Minet-Thuriaux, M, Kamoun, P, and Briand, P.
1988.
"Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line."
United Kingdom.
https://doi.org/10.1093/nar/16.5.2099.
@misc{etde_6924601,
title = {Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line}
author = {Cavard, C, Grimber, G, Dubois, N, Chasse, J F, Bennoun, M, Minet-Thuriaux, M, Kamoun, P, and Briand, P}
abstractNote = {The sparse fur with abnormal skin and hair (Spf-ash) mouse is a model for the human x-linked hereditary disorder, ornithine transcarbamylase (OTC) deficiency. In Spf-ash mice, both OTC mRNA and enzyme activity are 5% of control values resulting in hyperammonemia, pronounced orotic aciduria and an abnormal phenotype characterized by growth retardation and sparse fur. Using microinjection, the authors introduced a construction containing rat OTC cDNA linked to the SV40 early promoter into fertilized eggs of Spf-ash mice. The expression of the transgene resulted in the development of a transgenic mouse whose phenotype and orotic acid excretion are fully normalized. Thus, the possibility of correcting hereditary enzymatic defect by gene transfer of heterologous cDNA coding for the normal enzyme has been demonstrated.}
doi = {10.1093/nar/16.5.2099}
journal = []
volume = {16:5}
journal type = {AC}
place = {United Kingdom}
year = {1988}
month = {Mar}
}
title = {Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line}
author = {Cavard, C, Grimber, G, Dubois, N, Chasse, J F, Bennoun, M, Minet-Thuriaux, M, Kamoun, P, and Briand, P}
abstractNote = {The sparse fur with abnormal skin and hair (Spf-ash) mouse is a model for the human x-linked hereditary disorder, ornithine transcarbamylase (OTC) deficiency. In Spf-ash mice, both OTC mRNA and enzyme activity are 5% of control values resulting in hyperammonemia, pronounced orotic aciduria and an abnormal phenotype characterized by growth retardation and sparse fur. Using microinjection, the authors introduced a construction containing rat OTC cDNA linked to the SV40 early promoter into fertilized eggs of Spf-ash mice. The expression of the transgene resulted in the development of a transgenic mouse whose phenotype and orotic acid excretion are fully normalized. Thus, the possibility of correcting hereditary enzymatic defect by gene transfer of heterologous cDNA coding for the normal enzyme has been demonstrated.}
doi = {10.1093/nar/16.5.2099}
journal = []
volume = {16:5}
journal type = {AC}
place = {United Kingdom}
year = {1988}
month = {Mar}
}