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Mnotch129X1/SvJ
QTL Variant Detail
Summary
QTL variant: Mnotch129X1/SvJ
Name: modifier of Notch; 129X1/SvJ
MGI ID: MGI:3036045
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:  129X1/SvJ
Variant
description
Allele Type:    QTL
Mutation:    Undefined
    This allele confers skeletal axial deformities compared to C57BL/6J. (J:79991)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
involves: 129X1/SvJ-Psen1tm1Psgh * C57BL/6J
 
Phenotypes:
Affected Systems
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skeleton
abnormal axial skeleton morphology
View phenotypes and curated references for all genotypes (concatenated display).
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)

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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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory