Pacs1^em1Gath
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pacs1^em1Gath
• Name: phosphofurin acidic cluster sorting protein 1; endonuclease-mediated mutation 1, Gary Thomas
• MGI ID: MGI:7518820
• Synonyms: Pacs1-4bp-del, Pacs1^delta4bp, Pacs1-KO
• Gene: Pacs1 Location: Chr19:5183714-5323138 bp, - strand Genetic Position: Chr19, 4.25 cM
• Alliance: Pacs1^em1Gath page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing is used create a 4 bp (ATCT) deletion in exon 4, which results in a frameshift null allele. (J:338950)

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 Pacs1 Mutation: 48 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)