Transcriptomics

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Retinas from the Pex1-G844D mouse model of Zellweger spectrum disorder


ABSTRACT: Gene expression analysis of retinas from a mouse model of the mild form of Zellweger spectrum disorder (ZSD). Mice homozygous for the hypomorphic Pex1-G844D allele, the murine ortholog of the human PEX1-G843D mutation found in a subset of patients with autosomal recessive ZSD, develop phenotypes found in humans with a milder form of ZSD, including retinal degeneration and vision loss. Similar to humans, mice heterozygous for the hypomorphic Pex1-G844D allele do not display age-related retinal abnormalities. We conducted a comparative analysis of retinal gene expression profile from Pex1-G844D homozygous and heterozygous mice in order to investigate the pathomechanisms of vision loss in humans with mild forms of ZSD.

ORGANISM(S): Mus musculus

PROVIDER: GSE52348 | GEO | 2013/12/15

SECONDARY ACCESSION(S): PRJNA227465

REPOSITORIES: GEO

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