Mapping Data

Experiment

• Experiment
  TEXT
• Chromosome
  X
• Reference
  J:52535 Vulpe CD, et al., Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nat Genet. 1999 FEB;21(2):195-199
• ID
  MGI:1333993

Genes

Gene	Allele	Assay Type
DXMit45
DXMit93
DXMit63
DXMit113a		overlapping clones, PCR amplified length variant
Heph	Heph^sla	overlapping clones, PCR amplified length variant
DXMit114
Eda
DXMit16

Notes

• Experiment
  The authors narrowed the region likely to contain the sla gene by exclusion mapping and ancestral chromosomal mapping. By analyzing the Ta^25H deletion mutant mice that do not suffer from anemia, sla was placed proximal to DXMit16 and DXMit114. The detection of four dinucleotide markers, DXMit93, DXMit63, DXMit113a and DXMit114, in which alleles in C57BL/6J-sla differ from C58BL/6J narrowed the region to 2 cM in which the sla gene resides. The authors then identified a gene, Heph, which mapped to the mouse BAC 285L22. This BAC also overlapped with a BAC containing DXMit113a. The authors identified a deletion in the Heph gene. The authors performed Southern blots with a probe spanning the deletion on the 26 recombinants between sla and the flanking markers DXMit45 and DXMit16 identified in a previous cross (MGI:1201976). In all cases, the deleted band cosegregated with the sla phenotype. The authors were able to conclude that the deletion in the Heph gene underlies the phenotype in the sla mice. This wasthen cconfirmed by expression studies.