Extended Data Fig. 6: Syn 0.52 mice show highly penetrant polydactyly in both forelimb and hindlimb, as well as tibial hemimelia.
From: Affinity-optimizing enhancer variants disrupt development
a, In the hindlimb, heterozygotes and homozygotes have 100% penetrance in polydactyly. In the forelimb, homozygotes have 100% penetrance whereas heterozygotes have 93.6% penetrance. b, Tibial hemimelia is observed in 95.3% of homozygotes but no heterozygotes. c, Digit phenotypes on the hindlimbs of all mice studied. d, Digit phenotypes on the forelimbs of Syn 0.52 mice. WT, LOF, French 2, Indian 2 and Syn 0.25 have no forelimb phenotypes. TT denotes triphalangeal toe or thumb.
