The ENU-induced mutation is a c.628T>A substitution that changes phenylalanine codon 210 to an isoleucine codon (p.Phe210Ile, p.F210I). The mutation is located in the second RNA recognition motif (RRM2) domain of the encoded peptide. (J:101000)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count