The targeting construct introduced nucleotide substitutions that result in the amino acid substitution of arginine with histidine at position 114 (R114H). Recombination removed the selection cassette. (J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count