Reb1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Reb1^C57BL/6J
• Name: repetitive behavior 1; C57BL/6J
• MGI ID: MGI:3582687
• QTL: Reb1 Location: Chr1:91468266-100413667 bp Genetic Position: Chr1, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• Mutation details: Mice homozygous for this allele exhibit more repetitive activity, as shown by more frequent repetitive beam breaks in an open-field activity box, than do mice homozygous for the 129P2/OlaHsd-derived allele.
• Inheritance: Codominant

Notes

Mice heterozygous at this locus, i.e., having one C57BL/6J allele and one 129P2/OlaHsd allele, exhibit repetitive activity levels intermediate between those of animals homozygous for either parental allele.

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

J:105315

Subcongenic lines derived from B6.129P2-Il10^tm1Cgn/J were used to map behavioral QTL Emo4 (emotionality 4) and Reb1 (repetitive beam breaks 1) to 2 intervals on mouse Chromosome 1. Background strain C57BL/6J exhibits higher scores on repetitive beam breaks and increased open field activity compared to B6.129P2-Il10^tm1Cgn/J suggesting that one or more genes responsible for the modified behavioral phenotypes lie within the 129P2-derived Il10^tm1Cgn locus.

Emo4 mapped to a 17.8 Mb interval on mouse Chromosome 1 between Erbb4 (68.4 Mb) and B3gnt7 (86.2 Mb). Emo4 appears distinct from Emo1 and Emo3 as both previously identified loci map at least 30 cM away. Gene expression microarray analysis identified a potential candidate gene named Wdfy1, which maps to the Emo4 QTL interval. Wdfy1 exhibits significantly increased expression in a B6.129P2-Il10^tm1Cgn/J subcongenic line R5 compared to C57BL/6J.

Reb1 mapped to an 8.6 Mb interval between Asb1 (91.4 Mb) and NM_172851 (100 Mb). This locus was confirmedby linkage analysis using 750 (C57BL/6J x 129S1/SvImJ)F1 x C57BL/6J backcross animals. The Reb1 interval corresponds to a region on human Chromosome 2q36.2-36.3 that shows linkage to autism susceptibility. Gene expression microarray analysis identified 2potential candidate genes named Pam (97.6 Mb) and Stk25 (93.4 Mb). Both genes have been implicated in brain function.

References

• Original: J:105315 de Ledesma AM, et al., Two new behavioral QTLs, Emo4 and Reb1, map to mouse Chromosome 1: Congenic strains and candidate gene identification studies. Mamm Genome. 2006 Feb;17(2):111-8
• All: 1 reference(s)