Eae7^SJL/J
QTL Variant Detail

Summary

• QTL variant: Eae7^SJL/J
• Name: experimental allergic encephalomyelitis susceptibility 7; SJL/J
• MGI ID: MGI:2157447
• QTL: Eae7 Location: Chr11:77573873-99377820 bp Genetic Position: Chr11, cM position of peak correlated region/allele: 51.88 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: SJL/J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers shorter EAE disease duration compared to B10.S/DvTe. (J:49054)
• Inheritance: Dominant

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: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 2 loci mapping approximately 30 cM apart on mouse Chromosome 11, named Eae6 and Eae7 by the authors.

6.29.2015 Curator Note: Eae6 was originally mapped using a (ABH x NOD)F1 x NOD backcross in J:29171 in 1995; a cross which differs from the cross used here. We consider this a separate mapping experiment and have named the QTL identified on Chr 11, Eae44.

Eae44 mapped between flanking markers D11Mit2 and D11Mit307 with a peak LOD score of 4.51 at D11Mit53.

Eae7 mapped between flanking markers D11Bhm149 and D11Mit330 with a peak LOD score of 4.05 at D11Mit285.

J:53193

Analysis of 633 (SJL/J x B10.S/DvTe)F2 mice with induced experimental allergic encephalomyelitis (EAE) indicated the presence of a quantitative locus (QTL) involved with the monophasic remitting/nonrelapsing (M-RNR) form of the disorder. Eae7, with maximum linkage to D11Mit36 (47 - 52 cM), has previously recorded effects on severity and duration of symptoms. Susceptibility is associated with the SJL allele at Eae7.

J:56752

The authors had previously identified two potentially overlapping QTLs Eae44 and Eae7 on mouse Chromosome 11 (see J:49054). The authors used composite interval mapping (CIM) which combines multiple regression and interval mapping to detect linked QTL anddefine more precisely the locations.

Composite interval mapping analysis was performed with the results from 681 (SJL/J x B10.S/DvTe)F2 mice (J:49054, J:53193). CIM allowed the authors to resolve Eae44 into two distinct QTLs. The first Eae44a, resides between D11Mit72 and D11Mit294 and is associated with disease severity. Lif is a possible candidate gene in this region though no sequence polymorphism was found in the Lif gene between the two strains.

The second QTL, Eae44b, is located between D11Mit307 and D11Mit140 and was associated with the duration of the disease. Il12b is a possible candidate gene in this region though no sequence polymorphism was found in the IL12b gene between these two strains.

CIM analysis also reduced the interval encodingthe Eae7 gene to a 8 cM region between D11Mit194 and D11Mit285. No sequence polymorphisms between the strains were found in Nos2, Scya3, Scya4, Scya5, Scya6, Scya7, Scya9, Scya10 and Scya11 genes, all of which map to the Eae7 interval. However, the Scya1,Scya2 and Scya12 genes which map in the Eae7 interval show polymorphisms between the two strains. Additionally, the EAE-resistant strains BALB/cJ and B10.S/DvTe, possess the same alleles for all three genes. Further studies are needed to clarify the roleof these allelic differences.

References

• Original: J:49054 Butterfield RJ, et al., New genetic loci that control susceptibility and symptoms of experimental allergic encephalomyelitis in inbred mice. J Immunol. 1998 Aug 15;161(4):1860-7
• All: 1 reference(s)