Prph2Rd2
Spontaneous Allele Detail
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| Nomenclature |
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Symbol:
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Prph2Rd2
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Name:
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peripherin 2;
retinal degeneration 2
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MGI ID: |
MGI:1856523 |
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Synonyms: |
Prph2Rds, Rd-2, rds, rds-, Rds, RdsRd2, retinal degeneration slow |
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Gene:
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Prph2
Location:
Chr17:46910459-46924933 bp, + strand
Genetic Position: Chr17,
22.91 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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Mutation details: The mutation is an insertion of approximately 10 kb in the gene after nucleotide 899 (numbering of the encoded mRNA), disrupting the protein coding sequence in exon 2. The inserted DNA was similar to both the TSE of mice, repeated elements found in the H2 complex, and to the mouse early transposon (ETn). Northern blot analysis demonstrated that an aberrant 12 kb transcript was produced from this allele, although at reduced levels compared to wild-type. This allele is predicted to encode a truncated protein with its carboxy terminal 116 amino acids replaced by 35 amino acids from sequences in the insertion. Mutant mice doubly homozygous for two retinal degeneration mutations (Pde6brd1 and RdsRd2) shows an intermediate level of mRNAs for the beta subunit of cGMP-PDE and for several other phototransduction related proteins, suggesting an interaction between Pde6brd1 and RdsRd2.
(J:2579, J:9635)
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Inheritance: | |
Semidominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:65320
Hilgers J,
"Prph2<Rd2> - retinal degeneration-2"
Mouse News Lett 1979;60():38
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All: |
75 reference(s)
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Analysis Tools
