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Gene Review

Fxr1  -  fragile X mental retardation gene 1,...

Mus musculus

Synonyms: 1110050J02Rik, 9530073J07Rik, AI851072, Fragile X mental retardation syndrome-related protein 1, Fxr1h, ...
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Disease relevance of Fxr1h


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].


  1. Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Mientjes, E.J., Willemsen, R., Kirkpatrick, L.L., Nieuwenhuizen, I.M., Hoogeveen-Westerveld, M., Verweij, M., Reis, S., Bardoni, B., Hoogeveen, A.T., Oostra, B.A., Nelson, D.L. Hum. Mol. Genet. (2004) [Pubmed]
  2. Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. Bakker, C.E., de Diego Otero, Y., Bontekoe, C., Raghoe, P., Luteijn, T., Hoogeveen, A.T., Oostra, B.A., Willemsen, R. Exp. Cell Res. (2000) [Pubmed]
  3. Characterization of Fxr1 in Danio rerio; a simple vertebrate model to study costamere development. Engels, B., van 't Padje, S., Blonden, L., Severijnen, L.A., Oostra, B.A., Willemsen, R. J. Exp. Biol. (2004) [Pubmed]
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