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Pde6ccpfl1
Spontaneous Allele Detail
Nomenclature
Symbol: Pde6ccpfl1
Name: phosphodiesterase 6C, cGMP specific, cone, alpha prime; cone photoreceptor function loss 1
MGI ID: MGI:2657247
Synonyms: cpfl1
Gene: Pde6c  Location: Chr19:38132781-38183955 bp, + strand  Genetic Position: Chr19, 32.77 cM
Mutation
origin
Strain of Origin:  CXB1/ByJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsThis 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pde6c Mutation:  30 strains or lines available
References
Original:  J:75095 Chang B, et al., Retinal degeneration mutants in the mouse. Vision Res. 2002 Feb;42(4):517-25
All:  21 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory