A G to A missense mutation results in the amino acid substitution of arginine for lysine at position 4828 (R4828K) in exon 61, corresponding to the human R4859K mutation in exon 60. Cre-mediated recombination removed the floxed neomycin cassette inserted upstream of exon 61. (J:229422)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count