Exon 4 was replaced with one in which nucleotide substitutions (resulting in the amino acid substitutions Y23N, R28N, R30H, and R31W) abolish the ligand receptor interacting domain governed by the burial of the beta-hairpin of the growth factor domain (GFD). The overal structure and catalytic function of the protein is preserved. A floxed neo cassette inserted downstream of the modified exon 4 was removed by cre mediated recombination. (J:164542)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count