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| Nomenclature |
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Symbol:
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Pde6ccpfl1
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Name:
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phosphodiesterase 6C, cGMP specific, cone, alpha prime;
cone photoreceptor function loss 1
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MGI ID: |
MGI:2657247 |
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Synonyms: |
cpfl1 |
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Gene:
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Pde6c
Location:
Chr19:38132781-38183947 bp, + strand
Genetic Position: Chr19,
32.77 cM
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Mutation
origin |
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Strain of Origin:
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CXB1/ByJ
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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Mutation details: This spontaneous allele contains a 116 bp insertion between exons 4 and 5 (c.864_865ins116) and a 1 bp deletion in exon 7 (c.1042delT) which both result in a frame shift and premature stop codon (p.L348fsX362). (J:111892, J:154763)
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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 |
Phenotypic Similarity to Human Syndrome: Achromatopsia (J:154763)
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| References |
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Original: |
J:75095
Chang B et al.,
"Retinal degeneration mutants in the mouse."
Vision Res 2002 Feb;42(4):517-25
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All: |
10 reference(s)
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Analysis Tools
