Fig. 1

Analysis of Kctd1 in wild-type and Kctd1 ^I27N mutant mice. a Electropherogram of the Kctd1 ^I27N mutation. The box shows the T→A transversion from the wild-type codon ATT (I) to the mutant codon AAT (N) at amino acid position 27 (265 aa isoform). b Genotyping of mice by allele-specific PCR-RFLP reaction. BsmI restriction digest of the 519 bp PCR product results in 314 bp and 205 bp fragments of the wild-type allele. Hom, Kctd1 ^I27N homozygous mutant; Het, Kctd1 ^I27N heterozygous mutant; Wt, wild-type; M, pUC Mix 8 marker, MBI Fermentas. c Partial protein sequence alignment of murine KCTD1 with other species. Amino acid residue in red color shows the position of the Kctd1 ^I27N mutation. Amino acid residues in grey color show the positions of mutations in humans affected by the SEN syndrome [17]. Amino acid number of the human sequence (257 aa) is murine amino acid number (265 aa isoform) minus 8