Hcbip1^C57BL/10ScSn
QTL Variant Detail

Summary

• QTL variant: Hcbip1^C57BL/10ScSn
• Name: hexachlorobenzene induced porphyria 1; C57BL/10ScSn
• MGI ID: MGI:3029554
• QTL: Hcbip1 Location: Chr14:47335250-59962593 bp Genetic Position: Chr14, Syntenic

Variant origin

• Strain of Specimen: C57BL/10ScSn

Variant description

• Allele Type: QTL

Notes

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

J:52511

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.

References

• 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)