Calm2^em1Allg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Calm2^em1Allg
• Name: calmodulin 2; endonuclease-mediated mutation 1, Alfred L George
• MGI ID: MGI:7623972
• Synonyms: Calm2^N98S, Calm2^S
• Gene: Calm2 Location: Chr17:87740840-87754363 bp, - strand Genetic Position: Chr17, 57.49 cM
• Alliance: Calm2^em1Allg page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an A to G change at position 293 (c.293A>G) resulting in an asparagine to serine substitution at amino acid 98 (p.N98S). This is a human pathogenic variant in calmodulin genes associate with a life-threatening ventricular arrhythmia syndrome, calmodulinopathy. (J:345934)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Calm2 Mutation: 21 strains or lines available

References

• Original: J:345934 Wren LM, et al., Sex and Gene Influence Arrhythmia Susceptibility in Murine Models of Calmodulinopathy. Circ Arrhythm Electrophysiol. 2023 Sep;16(9):e010891
• All: 1 reference(s)