Thap1^{tm1b(EUCOMM)Hmgu}
Targeted Allele Detail

Summary

• Symbol: Thap1^{tm1b(EUCOMM)Hmgu}
• Name: THAP domain containing, apoptosis associated protein 1; targeted mutation 1b, Helmholtz Zentrum Muenchen GmbH
• MGI ID: MGI:6302765
• Synonyms: Thap1^-
• Gene: Thap1 Location: Chr8:26648197-26654179 bp, + strand Genetic Position: Chr8, 14.4 cM
• Alliance: Thap1^{tm1b(EUCOMM)Hmgu} page
• IMPC: Thap1 gene page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:274428
• Parent Cell Line: JM8A3.N1 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The L1L2_Bact_P cassette was inserted at position 26650320 of Chromosome 8 upstream of exon 2 (Build GRCm39). The cassette is composed of an FRT site followed by a splice acceptor site, a lacZ cassette and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of exon 2 at position 26653288. Exon 2 and the neo cassette were deleted through subsequent cre-mediated recombination, creating a knockout allele. (J:274428)

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:274428 Frederick NM, et al., Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes. Hum Mol Genet. 2019 Apr 15;28(8):1343-1356
• All: 1 reference(s)