An InDel mutation, resulting in loss of 8bp and addition of 4bp in the CDS within the first exon of EMC7.
CTCA
The 8-bp sequence, TCAGCTGC, is replaced with CTCA resulting in a frameshift. The deletion coordinates were determined from the reported junction sequences.
EMC71 whole-eye clones are viable. Electroretinograms show the expected prolonged depolarization afterpotential to blue light stimuli, as observed in controls.