A mutation resulting in an N21K change in exon 3 and a second mutation resulting in an H116A change in exon 4 were introduced. In addition, a floxed neomycin resistance cassette was inserted in an intron ~3800 bp upstream of codon 116. The resistance cassette was subsequently removed from properly targeted mice by cre excision. (J:194821)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count