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Article

Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.

The American journal of pathology - 1 Oct 2010

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

Abstract excerpt

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 independent mouse mutant alleles, also described in patients affected with CTLN1, interact to produce a range of phenotypes....

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Identifiers

PMID: 20724589
DOI: 10.2353/ajpath.2010.100118
PMCID: PMC2947290

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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