Clp1^em1Than
Endonuclease-mediated Allele Detail

Summary

• Symbol: Clp1^em1Than
• Name: CLP1, cleavage and polyadenylation factor I subunit; endonuclease-mediated mutation 1, Toshikatsu Hanada
• MGI ID: MGI:6763934
• Synonyms: Clp1-R140H, Clp1^RH
• Gene: Clp1 Location: Chr2:84553466-84557631 bp, - strand Genetic Position: Chr2, 49.45 cM
• Alliance: Clp1^em1Than page

Mutation origin

• Strain of Origin: (C57BL/6 x C3H)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/cas9 genome editing is used to introduce a G to A mutation resulting in an arginine to a histidine missense mutation (R140H) in the first coding exon (exon 2). The mutation is homologous to one found in pontocerebellar hypoplasia type 10 (PCH10) patients. (J:310471)

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 Clp1 Mutation: 18 strains or lines available

References

• Original: J:310471 Morisaki I, et al., Modeling a human CLP1 mutation in mouse identifies an accumulation of tyrosine pre-tRNA fragments causing pontocerebellar hypoplasia type 10. Biochem Biophys Res Commun. 2021 Sep 17;570:60-66
• All: 1 reference(s)