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. 2015 Jan;185(1):197–213. doi: 10.1016/j.ajpath.2014.09.002

Table 1.

Ocular and Extraocular Abnormalities in Porcn-Mutant Mice at Embryonic Age E12.5 to E18.0

Genotype OFCD, % RPE defects, %
Open eyelid, % Cranio-facial defects, % MHB defects, % Normal, % Total embryos, No.
Severe Moderate Mild
Porcnlox/Y; Six3-Cre 0 0 0 0 0 0 0 100 19
PorcnΔ/lox/Y; Six3-Cre 0 0 0 7 13 3 3 90 29
Porcnhet 10 5 18 42 43 28 3 42 60
PorcnΔ/lox 8 4 31 22 20 35 4 31 26
PorcnΔ/lox/+; Six3-Cre 12 6 9 53 56 24 3 50 34
Porcnlox/Y; Wnt1-Cre 2 0 0 0 0 100 100 0 61
Porcnlox/Y; Rx3-Cre 13 0 20 50 0 95 17 0 30
Porcnlox/Y; Wnt1-Cre; Rx3-Cre 72 52 69 18 100 100 100 0 29
Porcnlox/+; Wnt1-Cre; Rx3-Cre 9 0 9 82 0 0 0 22 23
WT 0 0 0 0 0 0 0 100 109

MHB, Mid- and hindbrain; NE, normal; OFCD, optic fissure closure defect; WT, wild-type.

Severe RPE defects: embryos with transdifferentiated RPE or almost complete loss of pigment (eg, Figure 1E). Moderate RPE defects: eyes with severe pigment gaps or reduction of pigment circumferentially (eg, Figure 2D). Mild RPE defects: eyes with small gaps or a subtle reduction of pigment circumferentially (eg, Figure 2A), analyzed between E15.5 and E18.0.

The eyelid closure defect was determined at E16.5 to E18.0.

PorcnΔ/lox and PorcnΔ/lox;Six3-Cre combined.