Pde6c^cpfl1
Spontaneous Allele Detail

Summary

• Symbol: Pde6c^cpfl1
• 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: Pde6c^cpfl1 page

Mutation origin

• Strain of Origin: CXB1/ByJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• 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)

Disease models

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: 50 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: 29 reference(s)