Mnotch^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Mnotch^C57BL/6J
• Name: modifier of Notch; C57BL/6J
• MGI ID: MGI:3036044
• QTL: Mnotch Location: Chr1:174456299-174456436 bp Genetic Position: Chr1, cM position of peak correlated region/allele: 81.08 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers milder axial skeletal deformities compared to 129X1/SvJ. (J:79991)

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:79991

Notch-mild C57BL/6J mice 129 F2-Psen -/- mice were informative in mapping a modifier of Notch to mouse Chromosome 1 with a LOD score of ~ 6.0 with D1Mit150. Nicastrin (9430068N19Rik) and Presenilin 2 also mapped to this region. The authors concludedthat PS2 ( Presenilin 2) is unlikely to be the modifier, whereas more analysis is required for Nicastrin.

References

• Original: J:79991 Rozmahel R, et al., Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype. Proc Natl Acad Sci U S A. 2002 Oct 29;99(22):14452-7
• All: 1 reference(s)