Table 7 of Mansergh, Mol Vis 2015; 21:61-87.

Table 7. Functions of selected genes confirmed by qPCR (see Figure 2 and Supplementary Datafile 4 for associated qPCR results).

Gene Title and Symbol Functions Retinal functions References
low density lipoprotein receptor-related protein 4 Lrp4 Member of the low-density lipoprotein receptor-related protein family, may be a Wnt signaling regulator. Contains EGF like domain. Co-ordinates synapse formation at neuromuscular junctions. Mutated in Cenani-Lenz syndactyly syndrome and sclerosteosis. Knockout mice are growth retarded with fully penetrant polysyndactyly in their fore and hind limbs and partially penetrant abnormalities of tooth development. unknown Gene ID: 4038, OMIM604270
A530058N18Rik RIKEN cDNA , A530058N18Rik No human homologue noted. Uncharacterised unknown Gene ID: 320846.
sterile alpha motif domain containing 11, SamD11 Relatively uncharacterised. May promote cell proliferation slightly. Evolutionarily conserved from zebrafish to human. High expression levels in mouse retina, but human SamD11 is more widely expressed. Mouse SamD11 is expressed in developing photoreceptors and the pineal gland; expression is controlled by Crx. Gene ID: 148398 [74].
Cdk2ap2 CDK2-associated protein 2, Cdk2ap2 Interacts with cyclin-dependent kinase 2 associated protein 1. May be involved in self renewal regulation in ES cells; knockout ESCs showed an early differentiation phenotype, but embryoid bodies were unhealthy and showed high levels of apoptosis. Knockout ESCs were unable to form teratomas in SCID mice. unknown Gene ID: 10263 [75].
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha, Ppargc1a Transcriptional coactivator regulating genes involved in energy metabolism. Interacts with PPARgamma, permitting interaction with multiple transcription factors. It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis (particularly vital in the retina), and is a major factor regulating muscle fiber type determination. May also be involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. Ppargc1a/Ppargc1b double knockouts show heart abnormalities. SNP associated with neovascularization in AMD. Regulates VEGF in the retina, is strongly upregulated during postnatal retinal development, and is necessary for normal retinal vascularization. Knockout mice have reduced retinal vasculature. Regulator of interneuron function, master regulator of metabolism in peripheral tissues. [76-78] Gene ID:10891
cDNA sequence BC027072, BC027072 68% identity to human C2ORF71, which causes RP when mutated. Homology possibly not high enough to say this is definitively the mouse homologue. C2ORF71 causes digenic Usher syndrome when mutations in CEP250 are also present C2ORF71 is predominantly retinally expressed and localizes to the primary cilium of photoreceptor cells. Function otherwise uncharacterised. OMIM613425 [79-81].
nuclear receptor subfamily 6, group A, member 1, Nr6a1 Orphan nuclear receptor, member of the nuclear hormone receptor family. Homodimerizes and binds DNA, but in vivo targets unidentified. High level expression in testis, promotes neural development in early embryogenesis via suppression of Oct4 unknown Gene ID: 2649 [82,83].
kinesin family member 9 /// similar to kinesin family member 9, Kif9 Expression downregulated during hippocampal development and upregulated during kidney development. Interacts with GEM and stabilised microtubules. Gem and Kif9 are responsible for the regulation of spindle length during mitosis. Spindle abnormalities are seen when either protein is downregulated. Co-ordinated expression with Atoh1 during hair cell development in the inner ear; candidate gene for Usher syndrome? OMIM607910. Gene ID: 64147 [84,85]