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. Author manuscript; available in PMC: 2019 Jul 1.
Published in final edited form as: Prog Retin Eye Res. 2018 Mar 12;65:1–27. doi: 10.1016/j.preteyeres.2018.03.002

Table 3.

Phenotypes associated with loss of function of epigenome modifier genes in mice.

Gene Type Target Phenotype Reference
Dnmt1 Rx-Cre RPC Thinner retinal layers / Absence of outer segments
Lack of S-cones / Aberrant morphology and polarity of RPE
(Nasonkin et al., 2013)
Dnmt1 Chx10-Cre RPC RPC cell-cycle defects / Degeneration
Aberrant photoreceptor differentiation
(Rhee et al., 2012)
Dnmt1/3a/3b Rx-Cre RPC Global hypomethylation / Disorganization of synaptic layer
Aberrant photoreceptor differentiation/Lack of S-cones
(Singh et al., 2017)
Ep300/Crebbp Opsin-Cre PR Disrupted PR cell morphology and function
Loss of chromatin structure
(Hennig et al., 2013)
Sirt1 ESCs Germline Thin retinas with rosette-like structures (Cheng et al., 2003)
Sirt6 ESCs Germline Disrupted ERG / Dysregulation of metabolic genes (Silberman et al., 2014)
Kdm5b (Jarid1b) shRNA P0 retina Aberrant rod morphology / Dysregulation of gene expression (Hao et al., 2012)
Kdm6b (Jmjd3) shRNA E17 retina Failed differentiation of rod bipolar cells (Iida et al., 2014)
Bmi1 ESCs Germline Decreased proliferation of peripheral RPCs (Chatoo et al., 2010)
Bmi1 ESCs Germline Degeneration of cone bipolar cells and cone photoreceptors (Barabino et al., 2016)
Samd7 ESCs Germline De-repression of non-rod genes in rod photoreceptors (Omori et al., 2017)
Ehmt2 (G9a) Dkk-Cre RPC Loss of photoreceptor / Rosette formation
Persistent proliferation
(Katoh et al., 2012)
Ehmt2 (G9a) Crx-Cre PR No overt phenotype (Katoh et al., 2012)
Ezh2 Chx10-Cre RPC Postnatal photoreceptor degeneration
Dysregulation of photoreceptor genes
(Yan et al., 2016)
Ezh2 Math5-Cre RGC No overt phenotype (Yan et al., 2016)
Ezh2 Pax6-Cre or Six-Cre RPC Reduction of postnatal precursor proliferation
Aberrant lamination
Increased differentiation of late-born neurons
Upregulation of non-retinal genes
(Zhang et al., 2015a)
Ezh2 Dkk-Cre RPC Microphthalmia / Impaired postnatal proliferation
Increased proportion of ON-bipolar cells
Accelerated differentiation of rods and Müller glia
(Iida et al., 2015)
Ezh2 Dkk-Cre RPC Upregulation of rod-specific genes in rods (Ueno et al., 2016)
Ezh2 Rx-Cre RPC Increased differentiation of Müller glia (Fujimura et al., 2018)
Eed Rx-Cre RPC Reduced RPC proliferation / Increased proportion of amacrine cells / Postnatal cell-death Aberrant bipolar (Fujimura et al., 2018)
Prdm8 ESCs Germline cell differentiation and survival (Jung et al., 2015)

ESC, embryonic stem cell; PR, Photoreceptor; RGC, retinal ganglion cell; RPC, retinal progenitor cell.