Prph2^Rd2

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Species

Mus musculus

Symbol

Prph2^Rd2

Category

allele

Allele of gene

Prph2

Transgenic Constructs

None

Synonyms

• Prph2^Rds
• Rd-2

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Description

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 (Pde6b^rd1 and Rds^Rd2) shows an intermediate level of mRNAs for the beta subunit of cGMP-PDE and for several other phototransduction related proteins, suggesting an interaction between Pde6b^rd1 and Rds^Rd2.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations