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Allele : Rd3<rd3> retinal degeneration 3

Primary Identifier  MGI:1857014 Allele Type  Spontaneous
Gene  Rd3 Inheritance Mode  Recessive
Strain of Origin  RBF/DnJ Is Recombinase  false
Is Wild Type  false
description  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).
molecularNote  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.
  • mutations:
  • Nucleotide substitutions
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

8 Carried By

Trail: Allele

0 Driven By

18 Publication categories

Trail: Allele