A New Mouse Model of Mild Ornithine Transcarbamylase Deficiency (spf-j) Displays Cerebral Amino Acid Perturbations at Baseline and upon Systemic Immune Activation: e0116594

Ornithine transcarbamylase deficiency (OTCD, OMIM# 311250) is an inherited X-linked urea cycle disorder that is characterized by hyperammonemia and orotic aciduria. In this report, we describe a new animal model of OTCD caused by a spontaneous mutation in the mouse Otc gene (c.240T>A, p.K80N). Th...

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Veröffentlicht in:	PloS one 2015-02, Vol.10 (2)
Hauptverfasser:	Tarasenko, Tatyana N, Rosas, Odrick R, Singh, Larry N, Kristaponis, Kara, Vernon, Hilary, McGuire, Peter J
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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