Ecs^SWR/J
QTL Variant Detail

Summary

• QTL variant: Ecs^SWR/J
• Name: epistatic circling SWR/J; SWR/J
• MGI ID: MGI:1856855
• 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

Variant origin

• Strain of Specimen: SWR/J

Variant description

• Allele Type: QTL (Not Specified)
• Inheritance: Recessive

Notes

Rubie expression is restricted to the inner ear and is expressed in the sensory cristae that give rise to the semicircular canals. It is the only compelling candidate gene in the chromosome 14 ecs QTL region. Bmp4 lies outside of the QTL region as defined in J:209710.

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

J:75900

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.

References

• Original: J:12971 Doolittle DP, Two-gene circling in the mouse. Genetics. 1963;48:s887 (Abstr.)
• All: 3 reference(s)