Parp6^em1Msco
Endonuclease-mediated Allele Detail

Summary

• Symbol: Parp6^em1Msco
• Name: poly (ADP-ribose) polymerase family, member 6; endonuclease-mediated mutation 1, Michael S. Cohen
• MGI ID: MGI:6865766
• Synonyms: Parp6^TR
• Gene: Parp6 Location: Chr9:59524567-59557568 bp, + strand Genetic Position: Chr9, 32.02 cM, cytoband C
• Alliance: Parp6^em1Msco page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 5-bp deletion (TGCGC) plus a single base pair insertion (A) in exon 18 (c.1450_1455delTGTGC, c.1454_1455insA), resulting in a frameshift mutation 91 residues into the catalytic domain (aa483) and a subsequent early termination codon at amino acid 507 and a truncated protein devoid of the catalytic domain. RNAseq analysis from hippocampal tissue shows a 3-fold decrease in RNA levels compared to in wild-type mice. Homozygotes are devoid of catalytic activity. (J:319836)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(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 Parp6 Mutation: 24 strains or lines available

References

• Original: J:319836 Vermehren-Schmaedick A, et al., Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay. Cells. 2021 May 22;10(6)
• All: 1 reference(s)