Pacs1^em2Gath
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pacs1^em2Gath
• Name: phosphofurin acidic cluster sorting protein 1; endonuclease-mediated mutation 2, Gary Thomas
• MGI ID: MGI:7518815
• Synonyms: Pacs1-LSL-R201W, Pacs1tm1Gath
• Gene: Pacs1 Location: Chr19:5183714-5323138 bp, - strand Genetic Position: Chr19, 4.25 cM
• Alliance: Pacs1^em2Gath page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Conditional ready, Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing is used to insert a loxP-flanked SA-F-neo-STOP sequence in intron 3, followed by an arginine to tryptophan amino acid substitution at codon 201 (R201W, CGA to TGG and silent ACT to ACC mutation in codon 202) in exon 4 of the gene. The mutation is orthologous to the human R203W mutation. (J:338950)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Pacs1 Mutation: 46 strains or lines available

References

• Original: J:338950 Thomas G, et al., RNA-targeted therapy corrects neuronal deficits in PACS1 syndrome mice. Res Sq. 2023 Jan 27
• All: 2 reference(s)