CRISPR technology was used to generate a G to A nucleotide substitution that results in the amino acid substitution of arginine for glycine at position 220 (G220R). Founder 2 is heterozygous for the expected point mutation wthout any additional mutations. Founder 28 is heterozygous for the expected point mutation without any additional mutations. (J:222872)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count