Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol: Pde6brd1 Name: phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide; retinal degeneration 1 MGI ID: MGI:1856373 Synonyms: Pdebrd1, rd, rd-1, rd1, rodless retina Gene: Pde6b  Location: Chr5:108536239-108579609 bp, + strand  Genetic Position: Chr5, 53.07 cM Alliance: Pde6brd1 page

Retinal degeneration in Pde6brd1/Pde6brd1, and Pde6brd1/Pde6brd1 Cry1tm1Asn/Cry1tm1Asn Cry2tm1Asn/Cry2tm1Asn mouse retinas Show the 1 phenotype image(s) involving this allele.

Strain of Origin:

various

Allele Type:    Spontaneous Mutations:    Single point mutation, Viral insertion   Mutation details: Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C-to-A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain, has been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested. (J:4366, J:11513, J:51361) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	3 assay results 6 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	13 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 41 strains available      Cell Lines: 0 lines available
Carrying any Pde6b Mutation:	122 strains or lines available

Original:	J:24999 Keeler CE, The inheritance of a retinal abnormality in white mice. Proc Natl Acad Sci U S A. 1924 Jul;10(7):329-33
All:	442 reference(s)