Asq1^IQI
QTL Variant Detail

Summary

• QTL variant: Asq1^IQI
• Name: autoimmune sialitis in IQI mice, associated locus 1; IQI
• MGI ID: MGI:3768255
• QTL: Asq1 Location: unknown Genetic Position: Chr6, Syntenic

Variant origin

• Strain of Specimen: IQI

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers susceptibility to autoimmune sialitis in females compared to C57BL/6CrSlc. (J:127310)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

Mapping and Phenotype information for this QTL, its variants and associated markers

J:127310

Linkage analysis was performed on 179 female animals from a (IQI x C57BL/6CrSlc)F2 intercross to identify QTLs associated with autoimmune sialitis, a symptom of Sjogren's syndrome. Parental strain IQI is susceptible to spontaneous Sjogren's syndrome compared to C57BL/6CrSlc. At 8 weeks of age, IQI females display B-lymphocyte inflammation of the submandibular glands while males display inflammation of the lacrimal glands. Genome scan was conducted with 91 polymorphic markers at an average spacing of 18.2cM.

Significant linkage to B-lymphocytic sialitis score mapped to proximal mouse Chromosome 6 near D6Mit138 (0.68 cM, LOD=4.5). This locus appears to be recessive and is named Asq1 (autoimmune sialitis in IQI mice, associated locus 1). IQI-derived alleles confer susceptibility to B-cell dominant sialitis in females. The Asq1 interval spans a 7.5 cM region between the centromere and D6Mit159. A search for candidate genes in this interval returned with Ica1 at 2.9 cM. Sequence analysis revealed 6 nucleotide substitutions between IQI and C57BL/6CrSlc resulting in 2 amnio acid changes. Furthermore, deletion of Ica1 in NOD mice with Sjogren's syndrome resulted in reduced salivary gland disease and prevented lacrimal gland disease.

References

• Original: J:127310 Konno A, et al., Identification of a quantitative trait locus regulating B cell-dominant infiltration into autoimmune sialitis lesions of the IQI mouse model of primary Sjogren's syndrome. Immunogenetics. 2007 Nov;59(11):853-9
• All: 1 reference(s)