dolk-1

Caenorhabditis elegans

Predicted to enable dolichol kinase activity. Predicted to be located in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation Im. Is an ortholog of human DOLK (dolichol kinase).

Prph2

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]

Kcnj10

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

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

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]

Dolk

Rattus norvegicus

Predicted to enable dolichol kinase activity. Predicted to be involved in several processes, including dolichol phosphate mannose biosynthetic process; dolichyl monophosphate biosynthetic process; and protein glycosylation. Predicted to be active in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation Im. Orthologous to human DOLK (dolichol kinase); PARTICIPATES IN N-linked glycan biosynthetic pathway; INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A.

Cpsf7

Homo sapiens

Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as a heterotetramer, with a dimer of the 25 kDa subunit binding to two of the 59 or 68 kDa subunits. The protein encoded by this gene represents the 59 kDa subunit, which can interact with the splicing factor U2 snRNP Auxiliary Factor (U2AF) 65 to link the splicing and polyadenylation complexes. [provided by RefSeq, Oct 2016]