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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2010
Assuntos:
Regular Articles
Acesso em linha: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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