ArticleThe American journal of pathology2010
Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.
Article in The American journal of pathology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 40 citations in OpenAlex.
- A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria.Molecular genetics and metabolism · 2012Trial
- The Role of Urea Cycle Functional Studies in Preclinical Research.Journal of inherited metabolic disease · 2026Review
- RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I.Science translational medicine · 2026Article
- Keratinocytes drive the epithelial hyperplasia key to sea lice resistance in coho salmon.BMC biology · 2024Article
- Lethality rescue and long-term amelioration of a citrullinemia type I mouse model by neonatal gene-targeting combined to SaCRISPR-Cas9.Molecular therapy. Methods & clinical development · 2023Article
- Article
- Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.International journal of molecular sciences · 2022Article
- Cytosolic Delivery of Argininosuccinate Synthetase Using a Cell-Permeant Miniature Protein.ACS central science · 2021Article
- Targeting purine synthesis in ASS1-expressing tumors enhances the response to immune checkpoint inhibitors.Nature cancer · 2020Article
- l-Arginine Synthesis from l-Citrulline in Myeloid Cells Drives Host Defense against Mycobacteria In Vivo.Journal of immunology (Baltimore, Md. : 1950) · 2019Article
- Argininosuccinate synthase 1 is an intrinsic Akt repressor transactivated by p53.Science advances · 2017Article
- Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.Gene therapy · 2013Article
- Sustained generation of nitric oxide and control of mycobacterial infection requires argininosuccinate synthase 1.Cell host & microbe · 2012Article
- A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.Molecular genetics and metabolism · 2012Article
- Animal models of human genetic diseases: do they need to be faithful to be useful?Molecular genetics and genomics : MGG · 2011Review
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
Abstract
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. While some mutant mice died within the first week after birth, others survived but showed severe retardation during postnatal development as well as alopecia, lethargy, and ataxia. Notable pathological findings were similar to findings in human CTLN1 patients and included citrullinemia and hyperammonemia along with delayed cerebellar development, epidermal hyperkeratosis, and follicular dystrophy. Standard treatments for CTLN1 were effective in rescuing the phenotype of these mutant mice. Based on our studies, we propose that defective cerebellar granule cell migration secondary to disorganization of Bergmann glial cell fibers cause cerebellar developmental delay in the hyperammonemic and citrullinemic brain, pointing to a possible role for nitric oxide in these processes. These mouse mutations constitute a suitable model for both mechanistic and preclinical studies of CTLN1 and other hyperammonemic encephalopathies and, at the same time, underscore the importance of complementing knockout mutations with hypomorphic mutations for the generation of animal models of human genetic diseases.
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