Thap11^em1Poche
Endonuclease-mediated Allele Detail

Summary

• Symbol: Thap11^em1Poche
• Name: THAP domain containing 11; endonuclease-mediated mutation 1, Ross Poche
• MGI ID: MGI:6860325
• Synonyms: Ronin^F80L
• Gene: Thap11 Location: Chr8:106581764-106583582 bp, + strand Genetic Position: Chr8, 53.05 cM, cytoband D2
• Alliance: Thap11^em1Poche page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to G change at position 240, resulting in a phenylalanine to leucine substitution at amino acid 80 (p.F80L), which is a conserved residue in the THAP DNA binding domain. (J:317822)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	11 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 Thap11 Mutation: 9 strains or lines available

References

• Original: J:317822 Chern T, et al., Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy. Nat Commun. 2022 Jan 10;13(1):134
• All: 1 reference(s)