Homozygotes: A targeting vector was designed to replace exons 14-17 of the solute carrier family 4 (anion exchanger), member 2 (Slc9a4 or Ae2) gene with a neomycin resistance (neo) cassette, abolishing gene function. 20% of homozygous Ae2-/- mice die postnatally, with all dying by 40 days of age. Ae2 is expressed in epithelial cells of the kidney, respiratory tract, and alimentary tract. Ae2 is required for HCO3- efflux and Cl- influx across the basolateral membrane of gastric parietal cells, which are necessary for normal levels of gastric acid secretion. Ae2-/- mice are emaciated, mildly ataxic, show evidence of dehydration, exhibit hearing loss and defective development of bone, and demonstrate a failure of both molar and incisor tooth eruption. 
Heterozygote: Heterozygous mice are viable, fertile, and normal in size. They exhibit normal growth and are phenotypically similar to wildtype mice.

These Slc4a2 (or Ae2) knockout mice exhibit postnatal mortality (20%), with all dying by 40 days of age. Mice are emaciated, mildly ataxic, show evidence of dehydration, exhibit hearing loss and defective development of bone, and demonstrate a failure of both molar and incisor tooth eruption.

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