Table 1.

Loss of function or dysregulation of CELF proteins in the nervous system in animal models and human diseases with neurological symptoms

Family member	Animal model phenotype	Human neurological disease/disorder
CELF1	• Knockout mouse has infertility, perinatal lethal, growth retardation, likely placental defects; no neurological phenotype reported (Kress et al., 2007) • Over-expression rescues neurodegenerative phenotype in fruit fly model of fragile X syndrome (Sofola et al., 2007)	• Up-regulated in DM1 brain (Dhaenens et al., 2011) • Regulates alternative exon that is dysregulated in SCA8 (Daughters et al., 2009)
CELF2	• Down-regulated during brain injury in mouse model of ischemia (Otsuka et al., 2009) and in rat model of fetal alcohol syndrome (Naha et al., 2009) • Down-regulated in brain of SCA3 mouse model (Menzies et al., 2010) • Up-regulated in SMA mouse model (Anderson et al., 2004)	• Up-regulated in DM1 brain (Dhaenens et al., 2011) • Regulates alternative exons that are dysregulated in DM1 brain (Dhaenens et al., 2011; Leroy et al., 2006a; Zhang et al., 2002) • Up-regulated in SMA patients (Anderson et al., 2004) • Polymorphisms associated with high risk alleles for Alzheimer's disease (Wijsman et al., 2011)
CELF3	• Knockout mouse has spermatogenesis defect; no neurological phenotype reported (Dev et al., 2007)	• None described
CELF4	• Knockout mice have complex seizure disorders (Wagnon et al., 2011; Yang et al., 2007)	• Loss of function associated with seizure disorders and other neurological symptoms (Halgren et al., 2012) • Polymorphisms associated with autism spectrum disorders (Gilling et al., 2008)
CELF5	• None described	• Regulates alternative exon that is dysregulated in DM1 (Leroy et al., 2006b)
CELF6	• None described	• Regulates alternative exon that is dysregulated in DM1 (Leroy et al., 2006b)