Gene

Rd3

Species
Mus musculus
Symbol
Rd3
Name
retinal degeneration 3
Synonyms
  • 3322402L07Rik
  • rd-3
Biotype
protein coding gene
Automated Description
Involved in negative regulation of guanylate cyclase activity; retina development in camera-type eye; and visual perception. Located in nucleus; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in brain and sensory organ. Used to study Leber congenital amaurosis 12. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Leber congenital amaurosis 12; and retinal degeneration. Orthologous to human RD3 (RD3 regulator of GUCY2D).
MGI Description
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit retinal degeneration, beginning at 3 weeks of age, characterized by complete loss of photoreceptor rod cells by 5 weeks, and cones by 8 weeks. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR28489
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
191.710M191.711M191.712M191.713M191.714M191.715M191.716M191.717M191.718M191.719M191.720M

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions