Idd5.1^NOD/MrkTac
QTL Variant Detail

Summary

• QTL variant: Idd5.1^NOD/MrkTac
• Name: insulin dependent diabetes susceptibility 5.1; NOD/MrkTac
• MGI ID: MGI:3036876
• Synonyms: Idd5.1
• QTL: Idd5.1 Location: Chr1:57728276-62946882 bp Genetic Position: Chr1, Syntenic

Variant origin

• Strain of Specimen: NOD/MrkTac

Variant description

• Allele Type: QTL

Notes

Candidate Genes

J:83656

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.

References

• Original: J:88667 Hill NJ, et al., NOD Idd5 locus controls insulitis and diabetes and overlaps the orthologous CTLA4/IDDM12 and NRAMP1 loci in humans. Diabetes. 2000 Oct;49(10):1744-7
• All: 3 reference(s)