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Gene Review:

rd3 - retinal degeneration 3

Mus musculus

This record was replaced with 74023.

Danciger, J.S. et al., Pieke-Dahl, S. et al., Tomarev, S.I. et al., Linberg, K.A. et al., Chang, B. et al., et al.

Tomarev, Zinovieva, Chang, Hawes,

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Disease relevance of rd3

New mouse primary retinal degeneration (rd-3) [1].

High impact information on rd3

The rd3 mouse is one of the oldest identified models of early-onset retinal degeneration [2].
In this degeneration, called rd-3, differentiation proceeds postnatally through 2 weeks, and photoreceptor degeneration starts by 3 weeks [1].
A contig spanning the rd3 locus and consisting of 2 YACs and one BAC was generated, and Mush2a was absent from it, confirming its exclusion from the locus [3].
An intercross from an Rb(11, 13)4Bnr(rd3/rd3) x C57BL/6J mating was set up, 428 F2 meioses were analyzed, and the rd3 gene was placed between the markers D1MIT292/D1MIT209 and D1MIT510, a distance of 1.40 +/- 0.57 cM [3].
These data suggest that the rd3 mutation affects expression of the mouse Prox1 gene [4].

Biological context of rd3

Mouse Prox1 gene mapped to position 106.3 cM from the centromere of Chromosome 1, which is very close to the retinal degeneration mutation, rd3 [4].
Severe retinal degeneration in the inbred mouse strain RBF/DnJ is caused by rd3, a recessive gene located on mouse chromosome 1 distal to akp1 in a region which is orthologous to human 1q32-q42 [5].
Next we assessed the rd3/rd3 audiological phenotype to see how closely it paralleled that of Usher IIa [5].

Analytical, diagnostic and therapeutic context of rd3

These flanking markers and the mouse ortholog of USH2A (Mush2a) were mapped in the T31 mouse radiation hybrid (RH) panel, with the result that D1MIT292/D1MIT209 and D1MIT510 were 7.9 cR3000 apart ( approximately 800 kb), and Mush2a was > 30 cR3000 proximal to the pair, excluding it from the rd3 locus [3].
DNA of offspring from an RBF/DnJ x MOLF/Ei backcross was genotyped with PCR markers closely flanking the predicted location of rd3 [5].
Retinal development in 3 strains of rd-3/rd-3 mutant mice, previously shown to have different rates of degeneration, was studied using light, electron, and immunofluorescence microscopy [6].

References

New mouse primary retinal degeneration (rd-3). Chang, B., Heckenlively, J.R., Hawes, N.L., Roderick, T.H. Genomics (1993) [Pubmed]
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Friedman, J.S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H.P., Jalali, S., Hawes, N.L., Branham, K., Othman, M., Filippova, E., Thompson, D.A., Webster, A.R., Andr??asson, S., Jacobson, S.G., Bhattacharya, S.S., Heckenlively, J.R., Swaroop, A. Am. J. Hum. Genet. (2006) [Pubmed]
Genetic and physical maps of the mouse rd3 locus; exclusion of the ortholog of USH2A. Danciger, J.S., Danciger, M., Nusinowitz, S., Rickabaugh, T., Farber, D.B. Mamm. Genome (1999) [Pubmed]
Characterization of the mouse Prox1 gene. Tomarev, S.I., Zinovieva, R.D., Chang, B., Hawes, N.L. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
Hearing loss in the RBF/DnJ mouse, a proposed animal model of Usher syndrome type IIa. Pieke-Dahl, S., Ohlemiller, K.K., McGee, J., Walsh, E.J., Kimberling, W.J. Hear. Res. (1997) [Pubmed]
Morphological characterization of the retinal degeneration in three strains of mice carrying the rd-3 mutation. Linberg, K.A., Fariss, R.N., Heckenlively, J.R., Farber, D.B., Fisher, S.K. Vis. Neurosci. (2005) [Pubmed]

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