Pfdn5 (prefoldin 5) encodes a subunit of prefoldin, a molecular co-chaperone complex involved in the folding and stabilization of proteins. This ENU-induced mutation, nmf5a, was identified as an amino acid substitution of arginine for leucine at position 110 (L110R). Examination of the fundus of P28.5 homozygous mutants reveals a depigmented, yellow, granular fundus. Photoreceptor inner and outer segments are shorter than expected and the outer limiting membrane is attenuated as early as P8.5. Other retinal abnormalities include a transient retinal degeneration with some recovery at P42, and progressive reduction of both alpha and beta waves in dark and light adapted mice. Nervous system abnormalities in homozygous nmf5a mice include hydrocephalus (in 5-10% of mice), ataxia at 5 months of age, a small cerebellum, Purkinje cell death at 5 months of age, disorganization and reduction in the number of cilia in the ventricles, and a reduction in ciliary beating. Male mice are infertile with a 50% reduction in testes size and weight. Sperm number is reduced (oligospermia), seminiferous tubules are abnormal and there is a high incidence of immature, round spermatids. Female mutant mice are fertile, but experience difficulty in the birthing process.

These ENU-induced nmf5a mice carry an L110R mutation in the Pfdn5 (prefoldin 5) gene. Mice homozygous for the mutation exhibit a progressive neurodegeneration, early photoreceptor degeneration and male infertility.

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