Mvk^em1Mijr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mvk^em1Mijr
• Name: mevalonate kinase; endonuclease-mediated mutation 1, Michael J Rogers
• MGI ID: MGI:8246877
• Synonyms: Mvk^V377I, Mvk^VI
• Gene: Mvk Location: Chr5:114582330-114598652 bp, + strand Genetic Position: Chr5, 55.99 cM
• Alliance: Mvk^em1Mijr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A missense mutation resulting in the substitution of valine with isoleucine at amino acid 377 (p.V377I). In addition, a PAM-inactivating silent mutation in the P375 codon (CCC to CCA) was introduced. This is the most common variant seen in patients with the mevalonate kinase deficiency, hyperimmunoglobulinemia D periodic fever syndrome, and is a hypomorphic mutation. (J:371663)

Disease models

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 Mvk Mutation: 19 strains or lines available

References

• Original: J:371663 Munoz MA, et al., Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency. J Clin Invest. 2022 Oct 3;132(19):e160929
• All: 1 reference(s)