Pde6brd1
Spontaneous Allele Detail
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| Nomenclature |
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Symbol:
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Pde6brd1
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Name:
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phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide;
retinal degeneration 1
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MGI ID: |
MGI:1856373 |
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Synonyms: |
Pdebrd1, rd, rd1, rd-1, rodless retina |
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Gene:
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Pde6b
Location:
Chr5:108388391-108432397 bp, + strand
Genetic Position: Chr5,
53.07 cM
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Retinal degeneration in Pde6brd1/Pde6brd1, and Pde6brd1/Pde6brd1 Cry1tm1Asn/Cry1tm1Asn Cry2tm1Asn/Cry2tm1Asn mouse retinas
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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various
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutations: | |
Viral insertion, Single point mutation |
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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 also 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)
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Inheritance: | |
Recessive |
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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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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.
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| References |
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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
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All: |
236 reference(s)
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Analysis Tools
