Ptcd1^em1Afi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ptcd1^em1Afi
• Name: pentatricopeptide repeat domain 1; endonuclease-mediated mutation 1, Aleksandra Filipovska
• MGI ID: MGI:6280383
• Synonyms: Ptcd1^loxP
• Gene: Ptcd1 Location: Chr5:145084324-145103918 bp, - strand Genetic Position: Chr5, 85.06 cM, cytoband G2
• Alliance: Ptcd1^em1Afi page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Conditional ready)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 technology introduced loxP sites flanking exon 3 and also moved two bases from the 5' end of exon 4 to the 3' end of exon 3 to enable a frameshift upon conditional deletion of exon 3. Sequencing confirmed that the engineered exon-3 and exon-4 junctions are canonically spliced to produce an mRNA that is identical to the mRNA from wild-type mice. mRNA levels are comparable between homozygotes and wild-type mice. (J:271070)

Expression

In Mice Carrying this Mutation:

2 RNA-Seq or microarray experiment(s)

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 Ptcd1 Mutation: 31 strains or lines available

References

• Original: J:271070 Perks KL, et al., PTCD1 Is Required for 16S rRNA Maturation Complex Stability and Mitochondrial Ribosome Assembly. Cell Rep. 2018 Apr 3;23(1):127-142
• All: 2 reference(s)