A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
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.
Department of Human Genetics, University of Michigan, Ann Arbor 48109, USA.
F J
FJ
Probst
K S
KS
Chen
Q
Q
Zhao
A
A
Wang
T B
TB
Friedman
J R
JR
Lupski
S A
SA
Camper
D000015:Abnormalities, Multiple / Q000235:genetics*; D000818:Animals; D018244:Chromosomes, Artificial, Yeast; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D017931:DNA Primers; D004195:Disease Models, Animal; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D051379:Mice; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009218:Myosins / Q000235:genetics*; D020161:Physical Chromosome Mapping; D016324:Sequence Tagged Sites; D013577:Syndrome
D017931:DNA Primers; C485245:MYO15A protein, human; C114013:Myo15 protein, mouse; D009218:Myosins