Eppiq1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Eppiq1^C57BL/6J
• Name: elevated prepulse inhibition QTL 1; C57BL/6J
• MGI ID: MGI:3612495
• QTL: Eppiq1 Location: unknown Genetic Position: Chr16, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• Mutation details: The heterozygous state confers elevated prepulse inhibition compared to A/J and C57BL/6J homozygotes. (J:104045)
• Inheritance: Other (see notes)

Notes

Eppiq1 exhibits overdominance. Heterozygous animals exhibit elevated prepulse inhibition compared to homozygous animals.

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

J:104045

QTL affecting prepulse inhibition (PPI) of the acoustic startle response mapped to mouse Chromosome 16 in a chromosome substitution strain. C57BL/6J-Chr16^A/J/Na carries a pair of A/J-derived chromosome 16 on a C57BL/6J genetic background and exhibits significantly higher PPI at 70 dB and 80 dB prepulse intensities compared to C57BL/6J.

To localize the QTL, linkage analysis was performed using 87 male animals from a (C57BL/6J-Chr16^A/J/Na x C57BL/6J)F2 intercross. Forty-one single nucleotide polymorphisms (SNPs) spaced approximately 1 cM apart on chromosome 16 were used in the analysis. Two loci named Eppiq1 (elevated prepulse inhibition QTL 1) and Eppiq2 (elevated prepulse inhibition QTL 2) were identified. The proximal locus, Eppiq1, mapped to an interval between 40 Mb - 51.5 Mb (LOD=3.9) (~ 29 cM via MGI Curators) and the distal locus, Eppiq2, mapped to an interval between 78.6 Mb - 83.9 Mb (LOD=4.7) (~ 55 cM via MGI Curators). Eppiq1 and Eppiq2 are independent loci and do not interact with each other. Heterozygosity at Eppiq1 confers elevated PPI compared to animals homozygous for A/J- or C57BL/6J-derived alleles (overdominance model of inheritance). This locus explains 19% of the variance in F2 animals. Potential candidate genes for Eppiq1 with sequence variations between A/J and C57BL/6J are Drd3 (23.3 cM), Lsamp, Gap43 (29.5 cM), Zbtb20 (28.9 cM), and Tagln3. A/J-derived alleles at Eppiq2 confer elevated PPI with a recessive mode of inheritance. This locus explains 23% of the variance in F2 animals. Btg3 is the only potential candidate gene with sequence variations between A/J and C57BL/6J identified in this study for Eppiq2.

References

• Original: J:104045 Petryshen TL, et al., Two quantitative trait Loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strains. Genetics. 2005 Dec;171(4):1895-904
• All: 1 reference(s)