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Gene Review:

Rd4 - retinal degeneration 4

Mus musculus

Roderick, T.H. et al., Kitamura, E. et al.

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Disease relevance of Rd4

A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse [1].
CONCLUSIONS: The results suggest that disruption of the Gnb1 gene is responsible for Rd4 retinal disease [2].

High impact information on Rd4

PURPOSE: The Rd4/+ mouse inherits an autosomal dominant retinal degeneration that cosegregates with a large inversion spanning nearly all of mouse chromosome 4 (Chr 4) [2].
Disruption of the gene encoding the beta1-subunit of transducin in the Rd4/+ mouse [2].
The Rd4/+ phenotype was confirmed by ERG [2].
An autosomal dominant retinal degeneration, called Rd4, was found in a stock carrying the inversion In(4)56Rk, which was induced in a DBA/2J male [1].
Rd4 has not recombined with the inversion in an outcross, suggesting that the Rd4 locus is located very close to or is disrupted by one of the breakpoints of the inversion, either near the centromere or near the telomere [1].

References

A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse. Roderick, T.H., Chang, B., Hawes, N.L., Heckenlively, J.R. Genomics (1997) [Pubmed]
Disruption of the gene encoding the beta1-subunit of transducin in the Rd4/+ mouse. Kitamura, E., Danciger, M., Yamashita, C., Rao, N.P., Nusinowitz, S., Chang, B., Farber, D.B. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]

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