The targeting vector is designed to insert a loxP-flanked neomycin (neo) resistance cassette downstream of exon 10 of the gene. A T to G transition was introduced in exon 11, corresponding to human amino acid 468, resulting in a mutation, S467A. Cre-mediated recombination removed the upstream floxed neo cassette. (J:251115)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count