Hrh3^Eae8-s
QTL Variant Detail

Summary

• QTL variant: Hrh3^Eae8-s
• Name: histamine receptor H3; experimental allergic encephalomyelitis susceptibility 8, susceptible
• MGI ID: MGI:2155128
• Synonyms: Hrh3^Eae8, Hrh3^Eae8-SJL/J
• QTL: Hrh3 Location: Chr2:179741258-179746264 bp, - strand Genetic Position: Chr2, 102.62 cM

Variant origin

• Strain of Specimen: multiple strains

Variant description

• Allele Type: QTL
• Mutation: Single point mutation
• Mutation details: A single polymorphism (G to A) results in the amino acid aspartic acid at position 293 in strains C3H/HeJ, DBA/2J, NZW/LacJ, P/J and SJL. By comparison strains 129/Sv, A/J, AKR/J, B10.S/DvTe, BALB/cJ, BALB/cByJ, C57BL/6J, CBA/J, DBA/1J, FVB/NJ, NOD/LtJ, NZB/BInJ and PL/J contain a glycine at position 293. This allele confers susceptibility to EAE comapred with B10.S/DvTe. (J:204384)
• Inheritance: Dominant

Notes

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

J:49054

Authors isolated quantitative trait loci believed to be invloved with the disease frequency of experimental allergic encephalomyelitis (EAE). (SJL/J x B10.S/DvTe)F2; SJL/J (susceptible) and B10.S/DvTe (resistant) mice; were bred to create F2 progeny used in the analysis.

A genome wide scan of 291 affected and 390 unaffected animals indicated the presence of a locus mapping to mouse Chromosome 2, named Eae8 by the authors.

J:34892

In order to localize quantitative trait loci (QTLs) affecting the experimental autoimmune encephalomyelitis (EAE) phenotype, 68 susceptible and 68 immune mice derived from a (B10.S x SJL/J)F1 x B10.S backcross were analyzed. The SJL/J strain is highly susceptible to EAE while B10.S is resistant. QTL Eae8 (p = 0.001) was localized on mouse Chromosome 2 in an interval containing D2Mit147, D2Mit148 and D2Mit213.

References

• Original: J:34892 Encinas JA, et al., Genetic analysis of susceptibility to experimental autoimmune encephalomyelitis in a cross between SJL/J and B10.S mice. J Immunol. 1996 Sep 1;157(5):2186-92
• All: 3 reference(s)