Trap1^em1Iimcb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Trap1^em1Iimcb
• Name: TNF receptor-associated protein 1; endonuclease-mediated mutation 1, International Institute of Molecular and Cellular Biology in Warsaw
• MGI ID: MGI:8163545
• Synonyms: Trap1^Q641*
• Gene: Trap1 Location: Chr16:3857835-3895691 bp, - strand Genetic Position: Chr16, 2.38 cM, cytoband A1
• Alliance: Trap1^em1Iimcb page

Mutation origin

• Strain of Origin: CBA

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a premature translation termination codon at glutamine 641 (p.Q641*). This corresponds to p.Q639* that was identified in two autistic patients. (J:361875)

Expression

In Mice Carrying this Mutation:

1 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 Trap1 Mutation: 41 strains or lines available

References

• Original: J:361875 Rydzanicz M, et al., Mutation in the mitochondrial chaperone TRAP1 leads to autism with more severe symptoms in males. EMBO Mol Med. 2024 Nov;16(11):2976-3004
• All: 1 reference(s)