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Publication : Urogenital syndrome (us): a developmental mutation on chromosome 2 of the mouse.

First Author  Lane PW Year  1993
Journal  Mamm Genome Volume  4
Issue  9 Pages  481-4
PubMed ID  7906966 Mgi Jnum  J:14466
Mgi Id  MGI:62634 Doi  10.1007/BF00364781
Citation  Lane PW, et al. (1993) Urogenital syndrome (us): a developmental mutation on chromosome 2 of the mouse. Mamm Genome 4(9):481-4
abstractText  Urogenital syndrome (us) is a recessive mutation in mice characterized primarily by abnormalities of the axial skeleton and urogenital organs. We established linkage of us with the centromeric end of Chromosome (Chr) 2, using the Robertsonian Chr Rb(2.8)2Lub. Analysis of progeny from crosses using the Chr 2 markers Danforth's short tail (Sd) and ulnaless (Ul) positioned us near two loci that have recently been mapped by RFLPs, nonerythroid alpha-spectrin (Spna-2) and the paired-box-containing-gene-8 (Pax-8). The position of us relative to these loci was established by analysis of progeny from interspecific backcrosses between the us strains and Mus spretus. The estimated map distances and most likely gene order are centromere-Pax-8-2.1 +/- 1.2-us-0.7 +/- 0.7-Spna-2; however, the reverse order cannot be ruled out. Our data make it unlikely that us is a mutation in either Spna-2 or Pax-8. Spna-2 is close enough to us, however, to be a useful marker for positional cloning of the us gene. The human mutation Nail-patella-syndrome (NPS1) maps to the region of human Chr 9 (9q34) that is homologous to the us region of mouse Chr 2. Phenotypic similarities between the two syndromes suggest the possibility that they are caused by mutations at homologous loci.
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