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QTL Variant Detail
QTL variant: Sox10m2C57BL/6J
Name: Sox10Dom modifier 2; C57BL/6J
MGI ID: MGI:3699508
QTL: Sox10m2  Location: unknown  Genetic Position: Chr3, Syntenic
Strain of Specimen:  C57BL/6J
Allele Type:    QTL
Inheritance:    Other (see notes)
View phenotypes and curated references for all genotypes (concatenated display).

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


Whole genome scan of the 19 autosomes and X chromosome was performed on (C57BL/6J-Sox10Dom x C3H/HeJ)F2 intercross animals using single nucleotide polymorphisms (SNPs) spaced ~18 cM apart. The Sox10Dom mutation results in neural crest defects similarto those found in Hirschsprung disease in humans. F2 animals homozygous for Sox10Dom were scored for aganglionosis severity and penetrance as well as total affected gut length.

A modifier of Sox10Dom mapped to 15 cM - 23 cM on mouse Chromosome 5 and is designated Agln1(Sox10m3) (aganglionosis modifier 1). Peak linkage to aganglionosis severity (LOD=7) and penetrance (LOD=8.6) occurs at 21 cM near D5Ncnp1. Agln1 is also linked to total affected gut length (LOD=16.7). C57BL/6J-derived alleles at Agln1 confer increased aganglionosis with an additive mode of inheritance. Potential candidate genes located in the 1.5-LOD support interval include Uchl1 (36 cM), Atp8a1, and Phox2b (40 cM). These genes are known to be expressed in enteric neural crest cells in the embryonic gut.

Agln2(Sox10m2) (aganglionosis modifier 2) mapped to 80 cM on mouse Chromosome 3. Agln2 is linked to aganglionosis (LOD=4.1) and affected gut length (LOD=5.4), and the 1.5-LOD support interval spans 58 cM - 89 cM. C57BL/6J-derived alleles at Agln2 confer decreased aganglionosis severity and penetrance with an additive mode of inheritance.

Agln3 (Sox10m4)(aganglionosis modifier 3) mapped to 4 cM on mouse Chromosome 8 with LOD=6.3 for aganglionosis and LOD=7.1 for total affected gut length. C57BL/6J-derived alleles at Agln3 confer increased aganglionosis and affected gut length with additive inheritance. The 1.5-LOD support interval for Agln3 spans 0 cM - 20 cM.

Agln4 (Sox10m5)(aganglionosis modifier 4) mapped to 42 cM on mouse Chromosome 11 with LOD=6.9 for aganglionosis and LOD=6.9 for total affected gut length. The 1.5-LOD support interval spans 28 cM - 69 cM. C57BL/6J-derived alleles at Agln4 confer increased aganglionosis and affected gut length with additive inheritance.

Ednrb (Sox10m1) at 54 cM on mouse Chromosome 14 showed significant linkage to aganglionosis (LOD=13.8) and total affected gut length (LOD=13.7). This locus has previously been identified as a modifier of Sox10Dom.

Original:  J:118320 Owens SE, et al., Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease. Hum Mol Genet. 2005 Jun 1;14(11):1549-58
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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