Pde6a^tm1.1Bewi
Targeted Allele Detail

Summary

• Symbol: Pde6a^tm1.1Bewi
• Name: phosphodiesterase 6A, cGMP-specific, rod, alpha; targeted mutation 1.1, Bernd Wissinger
• MGI ID: MGI:5912453
• Synonyms: R562W
• Gene: Pde6a Location: Chr18:61353387-61422995 bp, + strand Genetic Position: Chr18, 34.41 cM
• Alliance: Pde6a^tm1.1Bewi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:242803
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Dominant negative, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A loxP site flanked neomycin resistance gene cassette was inserted into intron 12. A c.1684C>T substitution in arginine codon 562 in exon 13 changed that codon to a tryptophan codon (p.Arg562Trp or p.R562W). This mutation is found in retinitis pigmentosa (RP) patients. The neo cassette was removed through subsequent cre-mediated recombination. RT-PCR experiments showed that in the retina around half of the transcripts expressed from this allele skip exon 13 (p.541_576del). (J:242803)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pde6a Mutation: 53 strains or lines available

References

• Original: J:242803 Sothilingam V, et al., Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype. Hum Mol Genet. 2015 Oct 01;24(19):5486-99
• All: 3 reference(s)