Clp1^em1Slac
Endonuclease-mediated Allele Detail

Summary

• Symbol: Clp1^em1Slac
• Name: CLP1, cleavage and polyadenylation factor I subunit; endonuclease-mediated mutation 1, Susan L Ackerman
• MGI ID: MGI:6759435
• Synonyms: Clp1^R140H
• Gene: Clp1 Location: Chr2:84553466-84557631 bp, - strand Genetic Position: Chr2, 49.45 cM
• Alliance: Clp1^em1Slac page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 genome editing is used to introduce a G to A mutation (gRNA c.403-422; donor oligo c357-486 with c.419G to A and c.426C to A; NM_133840.2) at position 419 resulting in an arginine to histidine missense mutation (R140H) in the first coding exon (exon 2). The mutation homologous to one found in pontocerebellar hypoplasia type 10 (PCH10) patients. (J:311491)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Clp1 Mutation: 22 strains or lines available

References

• Original: J:311491 Monaghan CE, et al., The Clp1 R140H mutation alters tRNA metabolism and mRNA 3' processing in mouse models of pontocerebellar hypoplasia. Proc Natl Acad Sci U S A. 2021 Sep 28;118(39):e2110730118
• All: 1 reference(s)