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QTL Variant Detail
QTL variant: Hcbip1C57BL/10ScSn
Name: hexachlorobenzene induced porphyria 1; C57BL/10ScSn
MGI ID: MGI:3029554
QTL: Hcbip1  Location: Chr14:47335250-59962593 bp  Genetic Position: Chr14, Syntenic
Strain of Specimen:  C57BL/10ScSn
Allele Type:    QTL

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


Human porphyrias can be modelled in iron-loaded mice exposed to hexachlorobenzene. C57BL/10ScSn is a protoytpe susceptible strain whereas DBA/2 mice are extremely resistant. A search for susceptibility loci was undertaken using QTL analysis with microsatellite markers of high and low responders from an F2 intercross. Susceptibility is defined as the accumulation of uroporphrin in the liver. Statistical analysis revealed the presence of a region on mouse Chromosome 14 between D14Mit60 and D14Mit5 associated with porphyria susceptibility (LOD = 7.3). This locus was assigned the symbol Hcbip1.

Original:  J:52511 Akhtar RA, et al., Chromosomal linkage analysis of porphyria in mice induced by hexachlorobenzene-iron synergism: a model of sporadic porphyria cutanea tarda. Pharmacogenetics. 1998 Dec;8(6):485-94
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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