BALB.NCT-Cpox ^nct is a unique mouse model of hereditary coproporphyria.

ABSTRACT: In humans, mutations in the coproporphyrinogen oxidase (CPOX) gene can result in hereditary coproporphyria (HCP), characterized by high levels of coproporphyrin excretion in the urine and feces, as well as acute neurovisceral and chronic cutaneous manifestations. Appropriate animal models for comprehending the precise pathogenesis mechanism of HCP have not been reported that show similarities in terms of gene mutation, reduced CPOX activity, excess coproporphyrin accumulation, and clinical symptoms. As previously discovered, the BALB.NCT-Cpox ^nct mouse carries a hypomorphic mutation in the Cpox gene. Due to the mutation, BALB.NCT-Cpox ^nct had a drastic increase in coproporphyrin in the blood and liver persistently from a young

SUBMITTER: Kang X 

PROVIDER: S-EPMC10036863 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature