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| Nomenclature |
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Symbol:
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Rd3rd3
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Name:
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retinal degeneration 3
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MGI ID: |
MGI:1857014 |
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Gene:
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Rd3
Location:
Chr1:193801270-193809795 bp, + strand
Genetic Position: Chr1,
108.0 cM, cytoband H6
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Mutation
origin |
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Strain of Origin:
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RBF/DnJ
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Mutation
description |
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Allele
Type: |
Spontaneous |
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Mutation: |
Nucleotide substitutions |
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A 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) |
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Inheritance: |
Recessive |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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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).
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| References |
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Original: |
J:4367
Chang B et al.,
"New mouse primary retinal degeneration (rd-3)."
Genomics 1993 Apr;16(1):45-9
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All: |
7 reference(s)
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