Fig. 5: Kat6b overexpression rescues the cleft palate, aortic arch and cardiac defects observed in Kat6a–/– mice.

a–e Examination of N = 7 Kat6a+/+Kat6b+/+, N = 1 Kat6a–/–Kat6b+/+, N = 5 Kat6a–/–Tg(Kat6b) and N = 6 Kat6a+/+Tg(Kat6b) foetuses at E18.5 during dissection and by histopathology. Note that embryos homozygous for this allele of KAT6a rarely survive until E18.5. a Lateral view of the head and neck of E18.5 Kat6a+/+Kat6b+/+, Kat6a–/–Kat6b+/+, Kat6a–/–Tg(Kat6b) and Kat6a+/+Tg(Kat6b) foetuses. The arrow indicates an underdeveloped lower jaw in the Kat6a–/–Kat6b+/+ mouse. b Ventral view of the palate of E18.5 Kat6a+/+Kat6b+/+, Kat6a–/–Kat6b+/+, Kat6a–/–Tg(Kat6b) and Kat6a+/+Tg(Kat6b) foetuses. The arrow indicates a cleft palate in the Kat6a–/–Kat6b+/+ mouse. c, d Images of the heart and aortic arch of Kat6a+/+Kat6b+/+, Kat6a–/–Kat6b+/+, Kat6a–/–Tg(Kat6b) and Kat6a+/+Tg(Kat6b) E18.5 foetuses (c). Traces of the aortic arch and arteries (d). e H&E sections of the hearts of Kat6a+/+Kat6b+/+, Kat6a–/–Kat6b+/+, Kat6a–/–Tg(Kat6b) and Kat6a+/+Tg(Kat6b) E18.5 foetuses. Arrowhead indicates the ventricular septal defect in Kat6a–/–Kat6b+/+ animals. AA aortic arch, LA left atrium, LCCA left common carotid artery, LSA left subclavian artery, LV left ventricle, P2 secondary palate, PP primary palate, RA right atrium, RCCA right common carotid artery, RSA right subclavian artery, RV right ventricle, VS ventricular septum. Scale bars are 2 mm (a), 1 mm (b, c), 500 μm (e).