Clp1^em2Slac
Endonuclease-mediated Allele Detail

Summary

• Symbol: Clp1^em2Slac
• Name: CLP1, cleavage and polyadenylation factor I subunit; endonuclease-mediated mutation 2, Susan L Ackerman
• MGI ID: MGI:6759437
• Gene: Clp1 Location: Chr2:84553466-84557631 bp, - strand Genetic Position: Chr2, 49.45 cM
• Alliance: Clp1^em2Slac page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 genome editing is used to introduce a 16 bp deletion (gRNA c.403-422; NM_133840.2; deletion is c.414-429) mutation to the first coding exon (exon 2), creating a frameshift after codon 139 (of 425) and shortly followed by a termination codon. (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)