Fah KO Mouse
Product Name
Fah KO Mouse
Product ID
C001273
Strain Name
C57BL/6JCya-Fahem1/Cya
Backgroud
C57BL/6JCya
Reproduction
Heterozygote x WT
When using this mouse strain in a publication, please cite “Fah KO Mouse (Catalog C001273) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
Gene Alias
swst
NCBI ID
Chromosome
Chr 7
MGI ID
Datasheet
Strain Description
The FAH gene encodes the fumarylacetoacetate hydrolase (FAH) protein, a key enzyme in the tyrosine catabolism pathway. FAH is expressed in many tissues throughout the body but is most abundant in the liver and kidneys. Mutations in the FAH gene can lead to a deficiency in FAH activity, which results in the accumulation of fumarylacetoacetate (FAA) and other toxic metabolites in the body. This can lead to a variety of health problems, including hereditary tyrosinemia type 1 (HT1) [1-2]. HT1 is a rare autosomal recessive genetic disorder that is characterized by a deficiency in FAH activity. Symptoms of HT1 typically appear in early infancy and can include vomiting, diarrhea, jaundice, and failure to thrive. If left untreated, HT1 can lead to severe liver and kidney damage, as well as intellectual disability.
This model is a Fah gene knockout (Fah KO) mouse. The Fah gene in the mouse, which is homologous to the human FAH gene, has been knocked out using gene editing technology. Heterozygous Fah KO mice are viable and fertile. These mice can exhibit the typical characteristics of hereditary tyrosinemia type 1 (HT1), that is, the metabolic disorder of tyrosine in the body, leading to the accumulation of fumarate acetoacetate (FAA), which in turn causes hepatocyte damage. Homozygous Fah KO mice will die shortly after birth, manifesting as liver and kidney dysfunction, hypoglycemia, and significant changes in liver mRNA expression, and nitisinone (NTBC) is required to maintain their survival [3]. In addition, FRG mice (Fah KO/Rag2 KO/Il2rg KO) constructed by crossing Fah KO mice with Rag2 KO mice and Il2rg KO mice can be used for the study of human hepatocyte regeneration, thus creating mice "with a human liver" [4], which is of great significance for research on liver biology, stem cells, infectious diseases, metabolism, and gene therapy.
Reference
Morrow G, Angileri F, Tanguay RM. Molecular Aspects of the FAH Mutations Involved in HT1 Disease. Adv Exp Med Biol. 2017;959:25-48.
Frequent mutation reversioninversely correlates with clinical severity in a genetic liver disease,hereditary tyrosinemia.
Grompe M, Lindstedt S, al-Dhalimy M, Kennaway NG, Papaconstantinou J, Torres-Ramos CA, Ou CN, Finegold M. Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I. Nat Genet. 1995 Aug;10(4):453-60.
Grompe M. Fah Knockout Animals as Models for Therapeutic Liver Repopulation. Adv Exp Med Biol. 2017;959:215-230.
Strain Strategy
The Fah gene is located on mouse chromosome 7, and exons 2-10 of this gene were knocked out using gene editing techniques.
Figure 1. Gene editing strategy of Fah KO mice.
Application Area
Research on tyrosinemia type 1 (HT1).
Research on liver stem cell and hepatic gene therapy.
Research on liver repopulation.
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