Fig. 1.

Previously reported ECEL1 mutations. All reported pathogenic mutations are presented in the ECEL1 genomic structure (upper panel). The 18 exons of ECEL1 are shown in black boxes. The corresponding mutations that we introduced into our mouse models are shown in red. The consequences of the mutations at the protein level are indicated in the ECEL1 protein structure (lower panel). ECEL1 protein is a 775 amino acid transmembrane protein with a short cytosolic region and a long extracellular region. The zinc binding motif is expected to play a crucial role in the enzymatic activity