The targeting vector was designed to change arginine to cysteine at amino acid position 722 (R722C) by substituting CGC for TGC in exon 17. A loxP-flanked pGK neomycin cassette was also inserted in the intron. Cre mediated recombination removed the neo cassette. (J:171110)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count