Thap1^tm1.1Wtd
Targeted Allele Detail

Summary

• Symbol: Thap1^tm1.1Wtd
• Name: THAP domain containing, apoptosis associated protein 1; targeted mutation 1.1, William T Dauer
• MGI ID: MGI:8395692
• Synonyms: Thap1^F81L, Thap^flx
• Gene: Thap1 Location: Chr8:26648197-26654179 bp, + strand Genetic Position: Chr8, 14.4 cM
• Alliance: Thap1^tm1.1Wtd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:270833
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Hypomorph, No functional change)
• Mutations: Insertion, Single point mutation
• Mutation details:

  Phenylalanine codon 81 (TTT) in exon 2 was changed to leucine (p.F81L) and a loxP site was inserted into intron 1 and a FRT site flanked neomycin resistance gene cassette and a second loxP site into intron 3. The neo cassette was removed through subsequent Flp-mediated recombination. The mutation, in a highly conserved AVPTIF motif of the encoded protein, is the equivalent of the same human mutation associated with mixed-onset primary torsion dystonia (DYT6) and in mice leads to hypomyelination in the corpus callosum (CC). (J:270833)

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 Thap1 Mutation: 34 strains or lines available

References

• Original: J:270833 Yellajoshyula D, et al., The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage. Dev Cell. 2017 Jul 10;42(1):52-67.e4
• All: 2 reference(s)