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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

[63]

Rb-/-p107-/- chimera

Apoptosis and retinal dysplasia at E17.5

Photoreceptor death by PND15

[65]

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

[69]

NesCre1; Rb lox/lox ; p53-/-

Inner cell cell layer apoptosis and ectopic BrdU at E18.5

Photoreceptor layer degeneration in adult mosaic animals

[69]

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

PND30

[84]

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

[67]

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

[68]

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

[79]

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

[79]