Pde6a^em1Noa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pde6a^em1Noa
• Name: phosphodiesterase 6A, cGMP-specific, rod, alpha; endonuclease-mediated mutation 1, Nikolai O Artemyev
• MGI ID: MGI:7574260
• Synonyms: Pde6a^C857S
• Gene: Pde6a Location: Chr18:61353387-61422995 bp, + strand Genetic Position: Chr18, 34.41 cM
• Alliance: Pde6a^em1Noa page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: Cysteine codon 857 (TGT) in exon 22 was changed to serine (TCC) (p.C857S) using a crRNA and an ssODN template with CRISPR/Cas9 technology. The mutation blocks farnesylation of the residue in the encoded peptide. (J:343953)

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:343953 Yadav RP, et al., Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1. J Biol Chem. 2022 Jan 21;298(3):101620
• All: 1 reference(s)