This N-ethyl-N-nitrosourea induced A-to-T transversion at nucleotide 258 results in the replacement of arginine 86 with serine (p.Arg86Ser) in the NFACT-N domain. Western blot of spinal cord lysates from 45-day-old homozygotes shows normal levels of the mutant protein expression. (J:296528)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count