Disease relevance of Fxr1h

• Homozygous Fxr1 KO neonates die shortly after birth most likely due to cardiac or respiratory failure [1].

High impact information on Fxr1h

• The results presented here point towards a role for Fxr1p in muscle mRNA transport/translation control similar to that seen for Fmrp in neuronal cells [1].
• A second mouse model (Fxr1 + neo), which expresses strongly reduced levels of Fxr1p relative to WT littermates, does not display the neonatal lethal phenotype seen in the Fxr1 KOs but does display a strongly reduced limb musculature and has a reduced life span of approximately 18 weeks [1].
• Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo [1].
• In WT E19 skeletal and cardiac muscles, Fxr1p is localized to the costameric regions within the muscles [1].
• Skeletal muscle tissue showed only a high expression for Fxr1p [2].

Anatomical context of Fxr1h

• In the testis, Fxr1p is localized in immature spermatogenic cells and in brain tissue Fxr1p displays a predominantly nuclear staining in neurons throughout the brain [3].

References