Disease: Retinitis Pigmentosa 30

Name Retinitis Pigmentosa 30


Classification eye, genetic

Phenotypes Attenuation of retinal blood vessels; Autosomal dominant inheritance; Bone spicule pigmentation of the retina; Chorioretinal atrophy; Nyctalopia; Optic atrophy; Rod-cone dystrophy; Visual impairment

Associated Genes FSCN2 (Withdrawn symbols: RFSN, RP30 )

Mouse Orthologs Fscn2 (Withdrawn symbols: Ahl8, C630046B20Rik )

Source OMIM:607921 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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