Prickle1^em1Yzou
Endonuclease-mediated Allele Detail

Summary

• Symbol: Prickle1^em1Yzou
• Name: prickle planar cell polarity protein 1; endonuclease-mediated mutation 1, Yimin Zou
• MGI ID: MGI:6885945
• Synonyms: PK1^R104Q
• Gene: Prickle1 Location: Chr15:93396995-93493772 bp, - strand Genetic Position: Chr15, 47.69 cM
• Alliance: Prickle1^em1Yzou page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated an AGG to CAA change at residues 310-312 resulting in an arginine to glutamine substitution at amino acid 104 (R104Q). This is a mutation seen in progressive myoclonus epilepsy. (J:321396)

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 Prickle1 Mutation: 34 strains or lines available

References

• Original: J:321396 Ban Y, et al., Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism. Exp Neurol. 2022 Jan;347:113880
• All: 1 reference(s)