Mice homozygous for the pdsm mutation display head bobbing, circling, and occasional head tilt, evident by 3 weeks of age. The inner ear defects include diminished or absent otoconia, hair cells and spiral ganglion cells, malformed tectorial membrane, a reduction in the number of cochlear turns, degeneration of the organ of Corti, and displacement of Reissner's membrane resulting in enlarged scala media. Serum chemistry and histology failed to detect any signs of hypothyroidism.
The pdsm mutation arose spontaneously in the BXA7/Pgn strain in 2003 and was maintained on this background by sibling mating heterozygous females with homozygous males. In 2008 embryos were generated for cryopreservation via in vitro fertilization using homozygous males and +/? females from this colony.
|Allele Name||Pendred's syndrome model|
|Gene Symbol and Name||Slc26a4, solute carrier family 26, member 4|
|Strain of Origin||BXA7/PgnJ|
|Molecular Note||A T-to-A transversion occurred spontaneously in exon 7 resulting in the introduction of a premature stop codon at cysteine codon 282 (p.C282*).|
homozygous females are poor mothers
When using the Pendred syndrome model mouse strain in a publication, please cite the originating article(s) and include JAX stock #006816 in your Materials and Methods section.