CRISPR/Cas9 technology was used to generate a 6 amino acid substitution at amino acids 228-233, DSEQVT to CCPGCC, in the third intracellular loop. This change disrupts Gq signaling. (J:307747)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count