Prkar1a^tm1.1Geno
Targeted Allele Detail

Summary

• Symbol: Prkar1a^tm1.1Geno
• Name: protein kinase, cAMP dependent regulatory, type I, alpha; targeted mutation 1.1, Genoway
• MGI ID: MGI:6682077
• Gene: Prkar1a Location: Chr11:109540231-109560482 bp, + strand Genetic Position: Chr11, 72.33 cM
• Alliance: Prkar1a^tm1.1Geno page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:303060
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A CGG to TGA change resulting in an arginine to stop codon change at amino acid 368 (p.R368*) was introduced in exon 12 and a floxed neomycin cassette was inserted upstream of exon 12. The selection cassette was removed via cre-mediated recombination. This nonsense mutation has been identified in patients with type 1 acrodysostosis. (J:303060)

Disease models

Expression

In Structures Affected by this Mutation:

15 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 Prkar1a Mutation: 19 strains or lines available

References

• Original: J:303060 Le Stunff C, et al., Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis. J Bone Miner Res. 2017 Feb;32(2):333-346
• All: 1 reference(s)