Drd2^em1Knev
Endonuclease-mediated Allele Detail

Summary

• Symbol: Drd2^em1Knev
• Name: dopamine receptor D2; endonuclease-mediated mutation 1, Kim Neve
• MGI ID: MGI:7571457
• Synonyms: Drd2^I212F
• Gene: Drd2 Location: Chr9:49251927-49319477 bp, + strand Genetic Position: Chr9, 26.72 cM
• Alliance: Drd2^em1Knev page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Guide RNA [GACCCGCUUCCGACGCUUG] is used to insert an isoleucine to phenylalanine substitution at position 212 (c.634 A to T) in exon 5. Drd2 transcript Drd2-201 (ENSMUST00000075764.8) was utilized as reference for the exon number and guide sequences. In humans, the I212F mutation is associated with progressive chorea and cervical dystonia. (J:343841)

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 Drd2 Mutation: 68 strains or lines available

References

• Original: J:343841 Rodriguez-Contreras D, et al., Gait Abnormalities and Aberrant D2 Receptor Expression and Signaling in Mice Carrying the Human Pathogenic Mutation DRD2(I212F). Mol Pharmacol. 2023 Mar;103(3):188-198
• All: 1 reference(s)