Ontology highlight
ABSTRACT:
SUBMITTER: Tarasenko TN
PROVIDER: S-EPMC4315515 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Tarasenko Tatyana N TN Rosas Odrick R OR Singh Larry N LN Kristaponis Kara K Vernon Hilary H McGuire Peter J PJ
PloS one 20150203 2
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 protein and is homologous to a mutation that has also been described in a single patient a ...[more]