- Prph2 [Search on AGR]
Mus musculus PHENOTYPE: Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis. [provided by MGI curators]
- ru [Search on AGR]
Drosophila melanogaster roughoid (ru) encodes an intra-membrane serine protease localized in the endoplasmic reticulum. It processes Egfr ligands in specific tissues, most notably the eye.
- Kcnj10 [Search on AGR]
Mus musculus PHENOTYPE: Homozygous mutant mice show increased input resistance and high depolarization of retinal Muller cells, loss of the endocochlear potential, motor coordination deficits and hindlimb paralysis, and a hypomyelination and spongiform vacuolation in the spinalcord associated with severe axonal pathology. [provided by MGI curators]
- Crb1 [Search on AGR]
Mus musculus PHENOTYPE: Homozygotes for a null allele show focal retinal lesions, loss of adherens junctions between photoreceptors and Muller glia cells, and light-accelerated retinal degeneration. Homozygotes for a spontaneous allele show background-sensitive retinal spotting, photoreceptor dysplasia and degeneration. [provided by MGI curators]
- Syne2 [Search on AGR]
Mus musculus PHENOTYPE: Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture inprimary dermal fibroblasts and keratinocytes. Mice homozygous for spontaneous mutations exhibit early retinal defects in photoreceptors, secondary neurons, and muller glia. [provided by MGI curators]
- com2 [Search on AGR]
Saccharomyces cerevisiae Transcription factor that binds IME1 Upstream Activation Signal (UAS)ru; COM2 transcription is regulated by Haa1p, Sok2p and Zap1p transcriptional activators; may bind the IME1 promoter under all growth conditions to negatively regulate its transcription in the absence of a positive regulator that binds more effectively; repressor activity may depend on phosphorylation by PKA; C. albicans homolog (MNL1) plays a role in adaptation to stress