Aspartic acid codon 56 (GAC) the integrin-binding RGD sequence in exon 4 was changed to glutamic acid (GAG) (p.D56E). The protein product is predicted to be deficient in integrin-binding. A loxP flanked neomycin resistance gene cassette used for selection was removed by Cre-mediated recombination. (J:159246, J:173933)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count