Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes

Citrullinemia type I (CTLN1, OMIM# 215700) is an inherited urea cycle disorder that is caused by an argininosuccinate synthetase (ASS) enzyme deficiency. In this report, we describe two spontaneous hypomorphic alleles of the mouse Ass1 gene that serve as an animal model of CTLN1. These two independe...

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Main Authors: Perez, Carlos J., Jaubert, Jean, Guénet, Jean-Louis, Barnhart, Kirstin F., Ross-Inta, Catherine M., Quintanilla, Vicente C., Aubin, Isabelle, Brandon, Jimi L., Otto, Nancy W., DiGiovanni, John, Gimenez-Conti, Irma, Giulivi, Cecilia, Kusewitt, Donna F., Conti, Claudio J., Benavides, Fernando
Format: Artigo
Jezik:Inglês
Izdano: American Society for Investigative Pathology 2010
Teme:
Regular Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2947290/
https://ncbi.nlm.nih.gov/pubmed/20724589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2010.100118
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