ENU mutagenesis induced a T to G point mutation that results in a valine to glycine substitution at amino acid 235 (V235G), located within the GTPase domain. q-PCR from adult spleen shows normal mRNA expression while Western blot analysis indicates that protein levels in heterozygous splenocytes are approximately half that of wild-type. (J:330452)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count