International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


POSTER 119 - CHARACTERIZATION OF THE MOUSE HAIRY EARS (Eh) MUTATION

You Yun
Oak Ridge National Laboratory

1) Mentzer S, 1) Cacheiro N, 1) Chao H, 1) Carpenter D, 1) Chick S, and 2) Rinchik E
1) Oak Ridge National Laboratory. 2) Oak Ridge National Laboratory and University of Tennessee at Knoxville.

The mouse Hairy ears (Eh) mutation is associated with a ~ 40-cM paracentric inversion, In(15)Eh2Rl, in the distal half of Chr 15. Heterozygous Eh/+ mice have small and hairy ears, whereas Eh/Eh homozygotes typically die at various time before weaning. The phenotype of this mutation likely arises from disruptions caused by the inversion breakpoints. We mapped the proximal breakpoint to C57BL/6J BAC clones containing the D15Mit115 marker using fluorescent in situ hybridization (FISH) on metaphase Eh/+ cell spreads. The distal breakpoint was mapped to a BAC clone containing the D15Mit15 and D15Mit16 markers. The determination of both proximal and distal breakpoint structures enabled us to position the breakpoints more precisely. Two known genes, Sntb1 (syntrophin _ 1) and Has2 (hyaluronan synthase 2) flank the proximal breakpoint according to the currently available public mouse genome sequence data. The distal breakpoint maps ~8 kb from the 3 end of Hoxc4 and ~12 kb to the unknown gene. Because no obvious gene-coding sequence is disrupted, it is likely that the Eh phenotype originates from positional effects of one or both inversion breakpoints, which alter gene(s) expression. The lethal phenotype of Eh/Eh homozygotes will also be discussed.


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