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Article

A heterozygote phenotype is present in the jvs +/- mutant mouse livers.

Molecular genetics and metabolism - 1 May 2002

Lahjouji Karim, Elimrani Ihsan, Wu Jie, Mitchell Grant A, Qureshi Ijaz A

Abstract excerpt

The juvenile visceral steatosis (jvs) mouse, having a mutation in the carnitine transporter gene Octn2, is a model of primary systemic carnitine deficiency in humans (SCD, OMIM 212140). Like humans with SCD, homozygous jvs -/- mice have hepatic and cardiac steatoses, reduced plasma and tissue carnitines, and increased urinary carnitine clearance. Because symptomatic heterozygotes have been reported for some fatty...

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Source

Identifiers

PMID: 12175785
DOI: 10.1016/s1096-7192(02)00017-3

Genes

SCD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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