Clcn2 (chloride channel, voltage-sensitive 2) encodes a voltage gated chloride channel. Mutations in Clcn2 are associated with leukoencephalopathy with ataxia (LKPAT). The ENU-induced nmf289 mutation was identified as a glycine to valine missense mutation at residue 482 (G482V). Homozygous mice were identified at 3 months of age by the appearance of vascular atrophy in the fundus. In addition, the mutation is further characterized by a reduction in dark adapted ERG responses by 1 month of age, which corresponds to a loss of rod photoreceptor cells, elongated apical microvilli of the retinal pigment epithelium (RPE) cells, and vacuolization in the white matter tracts of the corpus callosum, brain stem and cerebellum. Homozygous male mice are azoospermic, lacking evidence of spermatocytes, spermatids or mature spermatozoa. This strain may be useful for studying some of the LKPAT disease phenotypes.

These ENU-induced nmf289 mice carry a G482V missense mutation in Clcn2 (chloride channel, voltage-sensitive 2) and exhibit some of the characteristics of leukoencephalopathy with ataxia (LKPAT) including photoreceptor degeneration and vacuolization of the white matter tracts of the brain. This strain may be useful for studying some of the LKPAT disease phenotypes.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.