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QTL Variant Detail
QTL variant: Idd5.1C57BL/10SnJ
Name: insulin dependent diabetes susceptibility 5.1; C57BL/10SnJ
MGI ID: MGI:3036875
Synonyms: Idd5.1
QTL: Idd5.1  Location: Chr1:57689117-62907723 bp  Genetic Position: Chr1, Syntenic
Strain of Specimen:  C57BL/10SnJ
Allele Type:    QTL
Mutation:    Undefined
    This allele confers resistance to insulin dependent diabetes compared to NOD/MrkTac. (J:88667)
View phenotypes and curated references for all genotypes (concatenated display).

Candidate Genes


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.

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:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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