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QTL Variant Detail
QTL variant: EcsC57L/J
Name: epistatic circling SWR/J; C57L/J
MGI ID: MGI:2430526
QTL: Ecs  Location: unknown  Genetic Position: Chr14, cM position of peak correlated region/allele: 20.88 cM
QTL Note: genome coordinates based on the marker associated with the peak LOD score
Strain of Specimen:  C57L/J
Allele Type:    QTL

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


Homozygosity testing was performed in 115 affected F2 circling progeny derived from a total of 3662 progeny from (C57L/J x SWR/J)F2 crosses. Animals were phenotyped for circling behavior at 3 weeks of age. A genome wide scan using 248 markers at an average spacing of 3.5 cM was indicated.

A significant association of the SWR/J inherited circling phenotype was observed with homozygosity at markers D14Mit120 (12.5 cM) and D14Mit141 (15 cM) with LOD=10.2. This recessively inherited locus is named Ecs (epistatic circling SWR/J). The confidence interval of Ecs spans a 24 cM region on chromosome 14.

An additional 411 animals from a (C57L/J x SWR/J)F2 x SWR/J backcross were used to identify C57L/J-derived modifiers of Ecs. Markers reaching statistical significance were identified on chromosomes 3, 4, and 13. Ecs on chromosome 14 was replicated in this cross. To localize these QTLs, 87 polymorphic markers were screened in 42 F2 animals exhibiting circling behavior.

Ecla (epistatic circling A C57L/J 1) mapped to 38 cM on mouse Chromosome 3 near D3Mit230. This locus is thought to have an additive effect and interacts with Ecs, Eclb, and Eclc. The C57L/J-derived alleles at Ecla is associated with circling behavior, but this locus does not appear to be obligatory.

Eclb (epistatic circling B C57L/J) mapped to 66 cM on mouse Chromosome 4 near D4Mit251. All affected animals have at least 1 C57L/J-derived risk allele at Eclb. This locus interacts with Ecs, Ecla, and Eclc. Whrn (31.4 cM) and Espn (80.1 cM; aka jerker) are potential candidate genes mapping near Eclb.

Eclc (epistatic circling C C57L/J) mapped to mouse Chromosome 13 near D13Mit191. The C57L/J-derived allele at Eclc is associated with circling behavior with a presumably additive mode of inheritance, but this locus does not appear obligatory. Eclc interacts with Esc, Ecla, and Eclb.

Original:  J:79500 Gabant P, et al., Alpha-fetoprotein, the major fetal serum protein, is not essential for embryonic development but is required for female fertility. Proc Natl Acad Sci U S A. 2002 Oct 1;99(20):12865-70
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.20
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