Functional Rescue of Degenerating Photoreceptors in Mice Homozygous for a Hypomorphic cGMP Phosphodiesterase 6 b Allele (Pde6bH620Q) | Zendy

Richard J. Davis | Zendy; Joaquin Tosi | Zendy; K Janisch | Zendy; J. M. Kasanuki | Zendy; NanKai Wang | Zendy; Jian Kong | Zendy; Ilene Tsui | Zendy; Marianne Cilluffo | Zendy; Michael L. Woodruff | Zendy; Gordon Fain | Zendy; ChyuanSheng Lin | Zendy; Stephen H. Tsang | Zendy

Open Access

Functional Rescue of Degenerating Photoreceptors in Mice Homozygous for a Hypomorphic cGMP Phosphodiesterase 6 b Allele (Pde6b^H620Q)

Author(s) -

Richard J. Davis,

Joaquin Tosi,

K Janisch,

J. M. Kasanuki,

NanKai Wang,

Jian Kong,

Ilene Tsui,

Marianne Cilluffo,

Michael L. Woodruff,

Gordon Fain,

ChyuanSheng Lin,

Stephen H. Tsang

Publication year - 2008

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.07-1422

Subject(s) - phosphodiesterase , allele , biology , genetics , medicine , physics , endocrinology , gene , biochemistry , enzyme

Approximately 8% of autosomal recessive retinitis pigmentosa (RP) cases worldwide are due to defects in rod-specific phosphodiesterase PDE6, a tetramer consisting of catalytic (PDE6alpha and PDE6beta) and two regulatory (PDE6gamma) subunits. In mice homozygous for a nonsense Pde6b(rd1) allele, absence of PDE6 activity is associated with retinal disease similar to humans. Although studied for 80 years, the rapid degeneration Pde6b(rd1) phenotype has limited analyses and therapeutic modeling. Moreover, this model does not represent human RP involving PDE6B missense mutations. In the current study the mouse missense allele, Pde6b(H620Q) was characterized further.

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