Mvk^em4Mijr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mvk^em4Mijr
• Name: mevalonate kinase; endonuclease-mediated mutation 4, Michael J Rogers
• MGI ID: MGI:8246880
• Synonyms: Mvk^delta91
• Gene: Mvk Location: Chr5:114582330-114598652 bp, + strand Genetic Position: Chr5, 55.99 cM
• Alliance: Mvk^em4Mijr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 91 bp deletion in exon 11, resulting in a frameshift mutation with the loss of residues L348-S378, altering the sequence of 7 amino acids (LEQPEVE to PHTQLQL) and causing deletion of the remaining residues from 355 onwards. No C-terminal truncated form of protein of the predicted mass is detected in the liver of homozygotes by Western blotting with an antibody to the mid-region, suggesting lack of expression or increased degradation of the mutant protein. (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)