Tyrosinemia Model
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Tyrosinemia is a metabolic disorder characterized by elevated plasma tyrosine levels resulting from defects in enzymes of the tyrosine metabolic pathway and is classified into three types. Type I, an autosomal recessive disorder with a global incidence of 1 in 120,000 - 1 in 100,000, is caused by a deficiency in fumarate acetoacetate hydrolase (FAH). This enzyme, mainly expressed in the liver and kidneys at the end of the tyrosine degradation pathway, normally breaks down fumarate acetoacetate (FAA) into fumarate and acetoacetate. Genetic mutations that impede or disrupt FAH synthesis cause FAA and its derivative, succinylacetone, to accumulate, leading to hepatic, renal, and neurological symptoms.
● Genetically Engineered Tyrosinemia Mouse Model
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Strain No.
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Strain Name | Strain Type | Description |
|---|---|---|---|
| T052634 | Fah-KO | Knock-out | Homozygous Fah-KO mice can only survive with NTBC dosing in drinking water. After NTBC withdral at 9 weeks of age, homozygous mice gradually develop impaired liver function and loss of body weight, which is attenuated by recovery of NTBC treatment. Plasma tyrosine concentration in 12-week-old homozygous mice after 4 weeks of NTBC withdral displays an over 3 fold increase compared to wildtype littermates, which jointly indicates the phenotype of tyrosinemia |