Idd5.1 QTL Detail

Summary

• Symbol
  Idd5.1
• Name
  insulin dependent diabetes susceptibility 5.1
• Synonyms
  Idd5.1, Idd5a

• Feature Type
  QTL
• IDs
  MGI:2158421
  NCBI Gene: 170801
• Candidate Genes
  1 Gene

Location &
Maps

• Sequence Map
  Chr1:57728276-62946882 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 1, cM position of peak correlated region/marker: Syntenic
• Mapping Data
  5 experiments

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  1 phenotype from 3 alleles in 2 genetic backgrounds
  1 phenotype from multigenic genotypes
  9 phenotype references
  

• All Mutations and Alleles
  4
• QTL
  4
• Find Mice (IMSR)
  4 strains or lines available

Sequences &
Gene Models

• NCBI Gene
  170801

References

• Summaries
  All 17

  Phenotypes 9
• Earliest
  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
• Latest
  J:259000 Rouxel O, et al., Cytotoxic and regulatory roles of mucosal-associated invariant T cells in type 1 diabetes. Nat Immunol. 2017 Dec;18(12):1321-1331

Candidate Genes for Idd5.1:

Gene	Genome Location (GRCm39)	Reference	QTL Note
Ctla4	Chr1:60948184-60954991 (+)	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.