A targeting construct was designed to introduce a lysine to glutamic acid mutation at amino acid position 641 (K641D) in exon 13. A loxP flanked neomycin resistance gene was included in the targeting vector in intron 13. Position 641 is within the first portion of the slpit kinase domain. (J:100778)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count