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Pde6ccpfl1
Spontaneous Allele Detail
Summary
Symbol: Pde6ccpfl1
Name: phosphodiesterase 6C, cGMP specific, cone, alpha prime; cone photoreceptor function loss 1
MGI ID: MGI:2657247
Synonyms: cpfl1
Gene: Pde6c  Location: Chr19:38121220-38172391 bp, + strand  Genetic Position: Chr19, 32.77 cM
Alliance: Pde6ccpfl1 page
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 structure(s)
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:  49 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:  27 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
03/19/2024
MGI 6.23
The Jackson Laboratory