A neomycin resistance cassette was inserted in the intron between exons 5 and 6. In exon 5, a mutation was introduced that changes a D codon to an E codon (D246E); this mutates the RGD integrin binding site in the propeptide to RGE. (J:120085)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count