Ifitm5^em1Pmof
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ifitm5^em1Pmof
• Name: interferon induced transmembrane protein 5; endonuclease-mediated mutation 1, Pierre Moffatt
• MGI ID: MGI:6195290
• Gene: Ifitm5 Location: Chr7:140528871-140530156 bp, - strand Genetic Position: Chr7, 86.17 cM
• Alliance: Ifitm5^em1Pmof page

Mutation origin

• Strain of Origin: CD-1

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a single -14C to T base change in the 5'-UTR, creating a novel ATG start site adding 5 residues (MALEP) in frame with the natural coding sequence. This is a mutation seen in some osteogenesis imperfecta type V patients. (J:255349)

Disease models

Expression

In Mice Carrying this Mutation:	152 assay results
In Structures Affected by this Mutation:	12 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 Ifitm5 Mutation: 8 strains or lines available

References

• Original: J:255349 Rauch F, et al., Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice. Bone. 2018 Feb;107:131-142
• All: 1 reference(s)