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Article

A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation.

PloS one - 1 Jan 2015

Tarasenko Tatyana N, Rosas Odrick R, Singh Larry N, Kristaponis Kara, Vernon Hilary, McGuire Peter J

Abstract excerpt

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). This transversion in exon 3 of ornithine transcarbamylase leads to normal levels of mRNA with low levels of mature...

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PMID: 25647322
DOI: 10.1371/journal.pone.0116594
PMCID: PMC4315515

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Source receipt: pubmed, retrieved 7 Sept 2026.

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