Table 2.
Percentages of skeletal alterations observed in newborn Asxl1 and Asxl1; Cbx2 compound mutants.
| Genotype | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| +/+ | Asxl1/+ | Asxl1/Asxl1 | +;Cbx2/+ | Asxl1/+;Cbx2/+ | Asxl1/Asxl1; Cbx2/+ | ||||||||
| n=11 | n=19 | n=14 | n=6 | n=11 | n=2 | ||||||||
| Phenotype | |||||||||||||
| C1 to exoccipital |
0 | 0 | 14 | 0 | 9 | 0 | |||||||
| C2 to C1 | 9 | 32 | 93 | 67 | 82 | 100 | |||||||
| C7 to T1 | 0 | 0 | 14 | 17 | 0 | 0 | |||||||
| Abnormal scapula |
0 | 0 | 0 | 0 | 9 | 0 | |||||||
| T7 to T8 | 0 | 0 | 0 | 0 | 9 | 50 | |||||||
| Offset ribs | 0 | 0 | 0 | 0 | 27 | 100 | |||||||
| Abnormal xiphoid process |
9 | 5 | 50 | 33 | 64 | 100 | |||||||
| T13 to L1 | 9 | 26 | 64 | 17 | 45 | 100 | |||||||
Penetrance of the skeletal abnormalities expressed as a percentage of the embryos analyzed for each genotype. Abbreviations and phenotypes are described in the text. The expressivity of the C1 to occipital transformation is much more severe in Asxl1; Cbx2 double mutants than in Asxl1 homozygotes (see Fig. 4C).