A neo cassette replaces exon 8 of the solute carrier family 26, member 4 (Slc26a4) gene abolishing gene expression in these Pds-/- mutant mice. A truncated transcript containing part of the neo cassette is detected in kidney RNA. Homozygotes are viable and fertile, but females often cannibalize their litters. The Slc26a4 gene product, pendrin, is an anion transporter expressed in epithelial cells of the thyroid, inner ear, and kidney. Pendrin mutations are associated with an enlarged vestibular aqueduct and Pendred syndrome (PS). Profound deafness is observed in both situations. Symptoms of PS also include an abnormal thyroid phenotype resulting in hypothyroidism and goiters. These Pds-/- mice are completely deaf. They have normal inner ear morphology until E15 when endolymphatic dilation occurs as seen in PS. During the second week after birth, abnormal inner ear morphology is evident, including degeneration of sensory cells, malformation of otoconia and otoconial membranes, and abnormally enlarged cochlear lumen. Half of homozygotes show signs of vestibular dysfunction, including circling, head-tilting, head-bobbing and abnormal reaching responses. Mice have a mild inability to alkalinize urine and notably, have a normal thyroid phenotype.

Pds-/- mice may have applications in studies related to deafness and vestibular dysfunction associated with Pendred syndrome.

Typically mice are recovered in 12-16 weeks. Contact Customer Service to place an order or for more information.

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