Abstract
Commentary: "prom1 function in development, intestinal inflammation, and intestinal tumorigenesis".
Highlights
Reported phenotype ReferenceMurine models with genetically modified prom1 gene Prom1-/- Exon 2Constitutive knockout CongenicDisk dysmorphogenesis and [5]C57BL/6 photoreceptor degenerationReduced branching in mammary gland [6] 129/swiss
Extensive clinical analysis of patients carrying PROM1 R373C mutation suggested that endothelial function could be affected despite apparently normal levels of endothelial progenitor cells [23]
In addition to engineered animal models, a spontaneous knockout mouse (Prom1rd19) carrying single point mutation in Prom1 gene was reported with retinal degeneration and abnormal retinal blood vessel morphology (Table 1)
Summary
Several mutations in PROM1 gene affecting the open reading frame were found to be associated with retinitis pigmentosa, macular degeneration, and cone-rod dystrophy (Table 1, bottom). Extensive clinical analysis of patients carrying PROM1 R373C mutation suggested that endothelial function could be affected despite apparently normal levels of endothelial progenitor cells [23]. In the first description of Prom-1-/mice, they were reported as viable and fertile, with a normal lifespan and no obvious abnormalities upon macroscopic inspection and histological analysis of various organs other than a progressive photoreceptor degeneration leading to complete loss of vision [5], constituting a mouse model of the human diseases.
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