Adcy2^em1Jde
Endonuclease-mediated Allele Detail

Summary

• Symbol: Adcy2^em1Jde
• Name: adenylate cyclase 2; endonuclease-mediated mutation 1, Jan Deussing
• MGI ID: MGI:8246800
• Synonyms: Adcy2^V151L
• Gene: Adcy2 Location: Chr13:68768162-69147660 bp, - strand Genetic Position: Chr13, 35.55 cM, cytoband C1
• Alliance: Adcy2^em1Jde page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 mediated recombination using two guide RNAs created a Val to Leu (GTG to CTG) substitution at position 151 in exon 3. Two silent mutations were also created to add an AluI site and obliterate the PAM sequence (NGG). The V151L mutation is homologous to a single nucleotide polymorphism associated with bipolar disorder in human patients. (J:360838)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	1 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 Adcy2 Mutation: 73 strains or lines available

References

• Original: J:360838 Sen P, et al., A bipolar disorder-associated missense variant alters adenylyl cyclase 2 activity and promotes mania-like behavior. Mol Psychiatry. 2025 Jan;30(1):97-110
• All: 1 reference(s)