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PMID:14507858

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Citation

Liu, Q, Lyubarsky, A, Skalet, JH, Pugh, EN Jr and Pierce, EA (2003) RP1 is required for the correct stacking of outer segment discs. Invest. Ophthalmol. Vis. Sci. 44:4171-83

Abstract

Mutations in RP1 are a common cause of dominant retinitis pigmentosa (RP), but the mechanism by which the identified mutations lead to photoreceptor cell death and blindness has not been determined. To investigate the function of the RP1 protein in photoreceptors and gain insight into the mechanism of disease, gene-targeting techniques were used to produce mice with a mutant Rp1 allele that mimics the truncation alleles found to cause disease.

Links

PubMed PMC1904498

Keywords

Animals; Blotting, Western; Electroretinography; Eye Proteins/physiology; Gene Expression; Gene Targeting; Humans; Mice; Mice, Knockout; Mice, Mutant Strains; Microscopy, Confocal; RNA, Messenger/analysis; Retinitis Pigmentosa/metabolism; Retinitis Pigmentosa/pathology; Reverse Transcriptase Polymerase Chain Reaction; Rod Cell Outer Segment/physiology; Rod Cell Outer Segment/ultrastructure

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:RP1

located_in

GO:0001750: photoreceptor outer segment

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:RP1

located_in

GO:0005930: axoneme

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:RP1

located_in

GO:0032391: photoreceptor connecting cilium

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:RP1

involved_in

GO:0046549: retinal cone cell development

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:RP1

involved_in

GO:0046548: retinal rod cell development

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:RP1

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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