Prkag2^tm2.1Mrl
Targeted Allele Detail

Summary

• Symbol: Prkag2^tm2.1Mrl
• Name: protein kinase, AMP-activated, gamma 2 non-catalytic subunit; targeted mutation 2.1, Merck Research Laboratory
• MGI ID: MGI:6435147
• Synonyms: AMPKgamma2^NI
• Gene: Prkag2 Location: Chr5:25067742-25305640 bp, - strand Genetic Position: Chr5, 11.93 cM
• Alliance: Prkag2^tm2.1Mrl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:237375
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: An AAT to ATT change resulting in an asparagine to isoleucine substitution at amino acid 485 (p.N485I) was introduced into exon 14. The positive selection marker (Puromycin resistance - PuroR) was flanked by F3 sites and inserted in intron 13. The constitutive point mutation allele was generated after Flp-mediated recombination. This corresponds to the human p.N488I mutation associated with Wolff-Parkinson-White syndrome. (J:237375)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Prkag2 Mutation: 53 strains or lines available

References

• Original: J:237375 Yang X, et al., Physiological Expression of AMPKgamma2RG Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice. J Biol Chem. 2016 Nov 04;291(45):23428-23439
• All: 2 reference(s)