Disease relevance of Fgf14

• Fgf14-deficient mice were viable, fertile, and anatomically normal, but developed ataxia and a paroxysmal hyperkinetic movement disorder [1].
• Mice lacking FGF14 (Fgf14(-/-) mice) have impaired sensorimotor functions, ataxia and paroxysmal dyskinesia, a phenotype that led to the discovery of the human mutation [2].

High impact information on Fgf14

• Neuropharmacological studies showed that Fgf14-deficient mice have reduced responses to dopamine agonists [1].
• We previously identified several host genes that are up-regulated in the mouse brain during RV infection, including neuroleukin, which is involved in neuronal growth and survival, cell motility, and differentiation, and fibroblast growth factor homologous factor 4 (FHF4), which has been implicated in limb and nervous system development [3].
• SCA27 is caused by an autosomal dominant missense mutation in Fibroblast Growth Factor 14 (FGF14) [2].
• The developmental expression pattern of Fgf14 in the cerebellum is complementary to that of Math1, a marker for proliferating granule cells in the external germinal layer [4].
• Using in situ hybridization we show that Fgf14 is widely expressed in brain, spinal cord, major arteries and thymus between 12.5 and 14.5 days of mouse embryonic development [4].

Biological context of Fgf14

• Here we characterize two isoforms of FGF14 (FGF14-1a and FGF14-1b) that result from the alternative usage of two different first exons [4].

Anatomical context of Fgf14

• Stage-specific expression of a novel isoform of mouse FGF-14 (FHF-4) in spermatocytes [5].

Physical interactions of Fgf14

• Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14 [1].

References