Spm1^C57BL/6
QTL Variant Detail

Summary

• QTL variant: Spm1^C57BL/6
• Name: splenomegaly modifier; C57BL/6
• MGI ID: MGI:2155767
• QTL: Spm1 Location: Chr4:99244395-99244582 bp Genetic Position: Chr4, cM position of peak correlated region/allele: 45.66 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C57BL/6

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers decreased splenomegaly compared to NZB. (J:59427)
• Inheritance: Not Specified

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:59427

75 female animals from a (C57BL/6 x NZB)F1 x NZB backcross were used to map QTLs involved in splenomegaly and anti-erythrocyte autoantibody (AEA) production. These two phenotypes develop spontaneously in the NZB strain, which is used as a model for autoimmune hemolytic anemia. AEA production and splenomegaly are inherited in a dominant fashion, but wild type alleles contributed by C57BL/6 are shown to have a suppressive affect on these traits. A QTL screen using 63 microsatellite markers mapped these modifying loci, Spm1 (splenomegaly modifer 1; LOD = 3.6), Aem2 (AEA modifier 2; LOD = 3.1), and Aem3 (AEA modifier 3; suggestive) to chromosomes 4 at 45.9 cM in linkage with D4Mit58, Chromosome 7 at 27.8 cM - 37.0 cM in linkage with D7Mit30, and Chromosome 10 at 41.5 cM in linkage with D10Mit42, respectively. Although Aem3 did not reach QTL statistical significance, this locus appears to have an additive affect in the presence of Aem2. Aem1, mapped to Chromosome 4 in a previous study, was not detected in this genome scan.

References

• Original: J:59427 Ochiai K, et al., Genetic regulation of anti-erythrocyte autoantibodies and splenomegaly in autoimmune hemolytic anemia-prone new zealand black mice. Int Immunol. 2000 Jan;12(1):1-8
• All: 1 reference(s)