Mapping Data

Experiment

• Experiment
  TEXT
• Chromosome
  10
• Reference
  J:82658 Chalhoub N, et al., Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med. 2003 Apr;9(4):399-406
• ID
  MGI:3056277

Genes

Gene
D10Mit108
D10Mit184
Afg1l
Nr2e1
Snx3
Ostm1
Sec63

Notes

• Experiment
  The grey lethal mutation was fine mapped by construction of a BAC contig spanning a 1.5 cM interval on mouse Chromosome 10. Eighteen overlapping BACs were used to localize the grey lethal locus to a 500 kb interval between D10Mit184 (25.5 cM) and the T7 end of BAC 371K6. The order of genes at this locus was determined to be as follows: centomere - D10Mit184 - Lace1 - Snx3 - Nr2e1 - Ostm1 - D10Mit108 - Sec63 - telomere. The gene responsible for the grey lethal phenotype was identified by BAC transgenic rescue. Three BAC clones (498E23, 373N3, 343H5) spanning the 500 kb critical region were separately injected into mouse embryos and crossed into the gl mutant background eventually generating gl/gl homozygous mutant transgenic animals. BAC 498E23 carries 3 genes: Lace1, Snx3, and Nr2e1. BAC 383N3 carries Ostm1, and BAC 343H5 carries Sec63. One BAC transgenic constructed from BAC 373N3 carrying Ostm1 rescued the grey lethal phenotype.