Mapping Data

Experiment

• Experiment
  TEXT-QTL-Candidate Genes
• Chromosome
  1
• Reference
  J:83656 Ueda H, et al., Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature. 2003 May 29;423(6939):506-11
• ID
  MGI:3054952

Genes

Gene	Assay Type
Ctla4
Idd5.1	resistance/susceptibility

Notes

• Experiment
  Ctla4 is a previously identified candidate gene for the diabetes susceptibility QTL Idd5a. A silent polymorphism was previously identified in exon2 of Ctla4. In this study a splice variant of Ctla4 was identified that is generated by the skipping of exon2. This isoform encodes a transmembrane protein lacking the CD80/CD86 binding domain and is expressed four-fold greater in activated and resting spleen cells of diabetes resistant strains C57BL/10J and C57BL/6J. It is believed that an exon 2 SNP at nucleotide 77 is responsible forthe difference in mRNA expression. Resistant strains C57BL/10J and C57BL/6J carry an A allele at nucleotide 77 whereas susceptible strain NOD carries the mutant G allele.