Mapping Data

Experiment

• Experiment
  TEXT-Physical Mapping
• Chromosome
  19
• Reference
  J:81444 Zhang Q, et al., Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. 2003 Feb;33(2):145-53
• ID
  MGI:2652614

Genes

Gene	Allele	Assay Type
Oga		overlapping clones, direct sequencing
Hps6	Hps6^ru	overlapping clones, direct sequencing
Ldb1		overlapping clones, direct sequencing
Elovl3		overlapping clones, direct sequencing
Pitx3		overlapping clones, direct sequencing
Nfkb2		overlapping clones, direct sequencing

Notes

• Experiment
  The authors constructed a physical map of the ru interval from a contig overlapping BACs and PACs. One BAC, 293M19 was fully sequenced and several genes were identified. One gene showed obvious abnormalities of the ru allele in RT-PCR assays. Further analysis confirmed that mutations in the Hps6 gene were responsible for the ru phenotypes. The order of markers in this interval on chromosome 19 are : 3'- Mgea5-5' - 5'- Hps6-3' - 3'- Ldb1 - 5' - 5'- Elovl - 3' - 3'- Pitx3 - 5' - 5'- Nfkb2 - 3'.