Fig. 1
From: Sacs R272C missense homozygous mice develop an ataxia phenotype
R272C Sacs knock-in mice. (a) Schematic representation of mouse sacsin protein domains as suggested by Romano et al. (2013), and exons as revealed by gene browser Ensembl. The R272C mutation lies at the end of the first sr1 domain and is localized in exon 7. (b) Sanger sequencing of mouse tail genomic DNA extracted from SacsR272C, heterozygous (SacsWT/R272C) and control (SacsWT) mice. The C to T mutation changes the amino acid from arginine to cysteine. (c) qRT-PCR of RNA purified from cortex and cerebella showing no significant difference between Sacs RNA levels of R272C, heterozygous and control mice. (d, e) Western blot analysis reveals significant reduction in mutant sacsin protein levels in cerebella of SacsR272C and heterozygous mice (d). Protein level quantification demonstrates a significant decrease in mutant sacsin protein in SacsR272C (79%) mice and SacsWT/R272C (35%) compared to control (e). Data represent means ± SEM, n = 3 mice per group; *P < 0.05, **P < 0.01, ***P < 0.001 (unpaired t-test)