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Gene Review

Aipl1  -  aryl hydrocarbon receptor-interacting...

Mus musculus

Synonyms: A930007I01Rik, Aryl-hydrocarbon-interacting protein-like 1
 
 
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Disease relevance of Aipl1

 

High impact information on Aipl1

  • Aipl1(-/-) mice have highly disorganized, short, fragmented photoreceptor outer segments and lack both rod and cone electroretinogram responses [1].
  • In Aipl1(-/-) retinas, the outer nuclear layer develops normally, but rods and cones then quickly degenerate [1].
  • Ectopic expression of AIPL1 led to deregulated retinal progenitor cell proliferation and alterations in cell fate specification; however, no gross abnormalities of proliferation during retinal development were detected [2].
 

Analytical, diagnostic and therapeutic context of Aipl1

  • Here we present development of an animal model of AIPL1-associated LCA, the Aipl1-deficient mouse [2].

References

  1. Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. Ramamurthy, V., Niemi, G.A., Reh, T.A., Hurley, J.B. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  2. Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis. Dyer, M.A., Donovan, S.L., Zhang, J., Gray, J., Ortiz, A., Tenney, R., Kong, J., Allikmets, R., Sohocki, M.M. Brain Res. Mol. Brain Res. (2004) [Pubmed]
 
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