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Pde6brd1
Spontaneous Allele Detail
Summary
Symbol: Pde6brd1
Name: phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide; retinal degeneration 1
MGI ID: MGI:1856373
Synonyms: Pdebrd1, rd, rd1, rd-1, 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.

Mutation
origin
Strain of Origin:  various
Mutation
description
Allele Type:    Spontaneous
Mutations:    Single point mutation, Viral insertion
 
Mutation detailsTwo 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 3 assay results
In Structures Affected by this Mutation: 12 anatomical structures
Find Mice (IMSR)
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:  101 strains or lines available
Notes
The following inbred strains are known to be homozygous for Pde6b: C3H sublines, CBA/J, FVB/NJ, PL/J, SB, SJL/J, and SWR/J.
References
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:  407 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/26/2022
MGI 6.22
The Jackson Laboratory