This allele carries a G to A substitution in exon 7, causing a glycine to glutamic acid substitution at position 245 of the protein (p.G245E). (J:95958)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count