Prrt2^em1Zqx
Endonuclease-mediated Allele Detail

Summary

• Symbol: Prrt2^em1Zqx
• Name: proline-rich transmembrane protein 2; endonuclease-mediated mutation 1, Zhi-Qi Xiong
• MGI ID: MGI:6858081
• Synonyms: Prrt2^Stop
• Gene: Prrt2 Location: Chr7:126616703-126620383 bp, - strand Genetic Position: Chr7, 69.28 cM
• Alliance: Prrt2^em1Zqx page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 technology inserted two stop codons (TAGTAA) into the C666 site in exon 2. This mimics the hot-spot mutation at the C649 site of human patients with paroxysmal kinesigenic dyskinesia. Normal levels of transcripts are seen in the brain, however complete loss of protein is seen, indicating a loss-of-function mutation. (J:255335)

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 Prrt2 Mutation: 19 strains or lines available

References

• Original: J:255335 Tan GH, et al., PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum. Cell Res. 2018 Jan;28(1):90-110
• All: 3 reference(s)