Prkg1^tm1.1Rbp
Targeted Allele Detail

Summary

• Symbol: Prkg1^tm1.1Rbp
• Name: protein kinase, cGMP-dependent, type I; targeted mutation 1.1, Renate B Pilz
• MGI ID: MGI:8402997
• Synonyms: Prkg1^R177Q, Prkg1^RQ
• Gene: Prkg1 Location: Chr19:30541889-31742433 bp, - strand Genetic Position: Chr19, 25.17 cM, cytoband C2
• Alliance: Prkg1^tm1.1Rbp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:279420
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S1/SvImJ

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details:

  Arginine codon 177 (CGG) was changed to glutamine (CAG) (p.R177Q) and an FRT site flanked neomycin resistance gene cassette was inserted in to intron 2. The neo cassette was removed through subsequent Flp-mediated recombination. The mutation, in the cyclic nucleotide-binding domain of the encoded protein, is the equivalent of the same human mutation associated with early-onset thoracic aortic disease and in heterozygous mice leads to a similar phenotype. (J:279420)

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

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 Prkg1 Mutation: 66 strains or lines available

References

• Original: J:279420 Schwaerzer GK, et al., Aortic pathology from protein kinase G activation is prevented by an antioxidant vitamin B12 analog. Nat Commun. 2019 Aug 6;10(1):3533
• All: 2 reference(s)