BXA7/Pgn-Slc26a4^pdsm/J

Stock number: 006816
Product name: Pendred syndrome model
Research areas: Mouse/Human Gene Homologs, Neurobiology Research, Reproductive Biology Research, Sensorineural Research

Description

Mice homozygous for the Slc26a4^pdsm spontaneous mutation have multiple inner ear defects and display head bobbing, circling, and occasional head tilt.

Detailed description

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.

Development

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

Symbol: Slc26a4^pdsm
Name: Pendred's syndrome model
MGI accession ID: MGI:3693973
Generation method: Spontaneous
Marker symbol: Slc26a4
Marker name: solute carrier family 26, member 4
Marker synonyms: DFNB4; EVA; Pds; pendrin; TDH2B
Chromosome: 12
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*).