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Rd3rd3
Spontaneous Allele Detail
Nomenclature
Symbol: Rd3rd3
Name: retinal degeneration 3
MGI ID: MGI:1857014
Gene: Rd3  Location: Chr1:191977370-191988283 bp, + strand  Genetic Position: Chr1, 97.09 cM, cytoband H6
Mutation
origin
Strain of Origin:  RBF/DnJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Nucleotide substitutions
 
Mutation detailsA C to T substitution in Rd3 results in a stop codon after residue 106. The truncated protein is initially expressed in in vitro assays but is degraded. (J:122439)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any Rd3 Mutation:  16 strains or lines available
Notes
This mutation causes retinal degeneration. In homozygous mutant mice, development proceeds normally through the second postnatal week. Thereafter, photoreceptor and outer nuclear layers begin to degenerate, and by 8 weeks, no photoreceptor cells remain. Changes in electroretinograms parallel the histologic changes. As of 1998 this is the only type of retinal degeneration reported in mice in which the photoreceptors are initially normal (J:4367).
References
Original:  J:4367 Chang B, et al., New mouse primary retinal degeneration (rd-3). Genomics. 1993 Apr;16(1):45-9
All:  15 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/04/2020
MGI 6.15
The Jackson Laboratory