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Prph2Rd2
Spontaneous Allele Detail
Nomenclature
Symbol: Prph2Rd2
Name: peripherin 2; retinal degeneration 2
MGI ID: MGI:1856523
Synonyms: Prph2Rds, Rd-2, rds, rds-, Rds, RdsRd2, retinal degeneration slow
Gene: Prph2  Location: Chr17:46910459-46924933 bp, + strand  Genetic Position: Chr17, 22.91 cM
Mutation
origin
Strain of Origin:  O20/A
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsThe 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)
Inheritance:    Semidominant
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Prph2 Mutation:  10 strains or lines available
References
Original:  J:65320 Hilgers J, Prph2 - retinal degeneration-2. Mouse News Lett. 1979;60:38
All:  80 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory