Table 1.
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.