Fig. 1
Pathological features and pedigree of three Charolais calves affected by a new form of congenital skin fragility. General view of case #2 (a) and details of a lesion at the basis of the neck (b), of the extremity of the right posterior limb (c, d), and of the left ear (e). Pictures of case #3 showing lesions on the muzzle, tongue (f) and hard palate (g). h) ITGB4Del_e17−23/Del_e17−23 calf affected by a severe form of JEB previously reported in the same breed. Histological sections of the skin of the knee at the level of a lesion (i) and of the external skin of the cheek in a grossly normal area (j) from case #2 stained with PAS and HES, respectively. Ed epidermis, Cr crust, De dermis. Black arrowheads point to areas of sub-epithelial splitting and blistering, empty arrowheads indicate inflammatory infiltrates, and grey arrowheads highlight the basement membrane. Bars = 200 μm. k) Pedigree of the affected calves and their relatives. Filled and semi-filled symbols represent affected and carrier animals, respectively, based on direct genetic testing (black) or inferred from pedigree information (grey). *Animals with DNA samples available. #: Individuals selected for whole genome sequencing