ENU mutagenesis induced nucleotide substitutions in exon 7 that result in the amino acid substitution of arginine for tryptophan at position 290 (W290R). This mutation is predicted to disrupt FGFR2 IIIb and IIIc isoforms. (J:160674)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count