Exon 2 was replaced with a mutated exon 2 encoding 7 amino acid substitutions (H46E, S47A, S51A, E52R, K53D, D79K, R80E) in three regions of the amino-terminal CUB domain, and a loxP site flanked neomycin resistance gene cassette was inserted into intron 1. The neo cassette was removed through subsequent cre-mediated recombination. Mutation of these sites was shown to abolish Sema3 family binding but not VEGF binding. Immunohistochemistry showed that homozygotes express normal levels of protein. (J:93799)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count