Calhm2^em1Zyu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Calhm2^em1Zyu
• Name: calcium homeostasis modulator family member 2; endonuclease-mediated mutation 1, Zengqiang Yuan
• MGI ID: MGI:8219395
• Synonyms: Calhm2 V136G
• Gene: Calhm2 Location: Chr19:47120671-47126733 bp, - strand Genetic Position: Chr19, 39.28 cM
• Alliance: Calhm2^em1Zyu page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a GTG to GGT change resulting in a valine to glycine substitution at amino acid 136 (p.V136G) in exon 2. This variant is associated with Alzheimers disease. In addition, a nonsense mutation (TCC to TCG) at codon 139 was introduced to prevent binding and recutting of the sequence. This is a loss-of-function mutation that attenuates ATP-release function. (J:368740)

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 Calhm2 Mutation: 29 strains or lines available

References

• Original: J:368740 Liao Y, et al., CALHM2 V136G polymorphism reduces astrocytic ATP release and is associated with depressive symptoms and Alzheimer's disease risk. Alzheimers Dement. 2023 Oct;19(10):4407-4420
• All: 1 reference(s)