The nucleotide sequence CGT in exon 6 which encodes Arginine at amino acid position 451 was modified to TGC which encodes Cysteine. A floxed neomycin cassette was also inserted in intron 6. The selection cassette was subsequently excised by crossing to Tg(EIIa-cre)C5379Lmgd mice. (J:167116)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count