A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2)

Genomics. 1999 Feb 1;55(3):348-52. doi: 10.1006/geno.1998.5669.

Abstract

We report the construction of a physical map of the region of mouse chromosome 11 that encompasses shaker-2 (sh2), a model for the human nonsyndromic deafness DFNB3. DFNB3 maps within the common deletion region of Smith-Magenis syndrome (SMS), del(17)(p11.2p11.2). Eleven of the genes mapping within the SMS common deletion region have murine homologs on the sh2 physical map. The gene order in this region is not perfectly conserved between mouse and human, a finding to be considered as we engineer a mouse model of Smith-Magenis syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Animals
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 17 / genetics*
  • DNA Primers
  • Disease Models, Animal
  • Gene Deletion
  • Humans
  • Intellectual Disability / genetics
  • Mice
  • Models, Genetic
  • Molecular Sequence Data
  • Myosins / genetics*
  • Physical Chromosome Mapping
  • Sequence Tagged Sites
  • Syndrome

Substances

  • DNA Primers
  • MYO15A protein, human
  • Myo15 protein, mouse
  • Myosins

Associated data

  • GENBANK/AF081119
  • GENBANK/AF081120
  • GENBANK/AF081121
  • GENBANK/AF081122
  • GENBANK/AF081123
  • GENBANK/AF081124