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Table 2 Developmental phenotypes upon Rb deletion in the retina

From: Insights from mouse models into human retinoblastoma

Genotype Major Developmental Phenotypes References
Rb-/- chimera Apoptosis and ectopic mitosis at E16.5–E18.5 in inner layer
Loss of most Rb-/- cells from all retinal layers in adults
Rb-/-p107-/- chimera Apoptosis and retinal dysplasia at E17.5
Photoreceptor death by PND15
Rb-/-p130-/- chimera Inner layer proliferation at PND14 [71]
NesCre1; Rb lox/lox Inner cell layer apoptosis and ectopic BrdU at E18.5
Photoreceptor degeneration in adult mosaic animals
NesCre1; Rb lox/lox ; p53-/- Inner cell cell layer apoptosis and ectopic BrdU at E18.5
Photoreceptor layer degeneration in adult mosaic animals
Chx10Cre; Rb lox/lox Defective rod differentiation and rod cell death
Ectopic cells in outer plexiform layer
[73, 77, 78]
Chx10Cre; Rb lox/lox ; p107-/- Increased proliferation of cells expressing progenitor and amacrine markers at
αCre; Rb lox/lox Increased apoptosis and proliferation in embryonic inner retina
Extension of normal proliferative period of retinal development
Ectopic proliferation of transition cells expressing markers of all 7 cell types
Death of most bipolar cells, ganglion cells and a subset of rods
Defective starburst amacrine cell differentiation
[67-69, 79]
αCre; Rb lox/lox ; p107-/- Increased apoptosis and proliferation over Rb mutants
Death of all peripheral cells except amacrine, horizontal and Müller cells
αCre; Rb lox/lox ; p130-/- Increased proliferation and apoptosis over Rb mutants
Severe degeneration from PND21 to PND31
Hyperplasia at extreme periphery in all mice by PND31
αCre; Rb lox/lox ; E2f1-/- Rescue of inappropriate proliferation and apoptosis in bipolar, ganglion cells and rods Rescue of electroretinogram response
Defects in starburst amacrine cell differentiation remain
αCre; Rb lox/lox ; E2f2-/- Phenotype similar to Pax6 alphaCre Rblox/lox retinas [79]
αCre Rb lox/lox ; E2f3-/- (or E2f3a-/-) No rescue of cell death or ectopic cell division
Rescue of stabrurst amacrine cell differentiation