Btbd9^{tm1c(EUCOMM)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Btbd9^{tm1c(EUCOMM)Wtsi}
• Name: BTB domain containing 9; targeted mutation 1c, Wellcome Trust Sanger Institute
• MGI ID: MGI:6384248
• Synonyms: Btbd9 loxP
• Gene: Btbd9 Location: Chr17:30434498-30795462 bp, - strand Genetic Position: Chr17, 15.62 cM, cytoband B1
• Alliance: Btbd9^{tm1c(EUCOMM)Wtsi} page
• IMPC: Btbd9 gene page

Mutation origin

• Mutant Cell Line: EPD0631_3_A09
• Germline Transmission: Earliest citation of germline transmission: J:282582
• Parent Cell Line: JM8A3.N1 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutation: Insertion Vector: L1L2_Bact_P
• Mutation details: The L1L2_Bact_P cassette was inserted at position 30743399 of Chromosome 17 upstream of the critical exon 4 (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence 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 the targeted exon 4 at position 30744374. The critical exon 4 is/are thus flanked by loxP sites. A "conditional ready" (floxed) allele was created by flp recombinase expression in mice carrying this allele to remove the lacZ sequence and neo selection cassette, leaving loxP sites flanking the critical exon 4. Further information on targeting strategies used for this and other IKMC alleles can be found at http://www.informatics.jax.org/mgihome/nomen/IKMC_schematics.shtml (J:282582)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Btbd9 Mutation: 51 strains or lines available

References

• Original: J:282582 Lyu S, et al., The role of BTBD9 in the cerebral cortex and the pathogenesis of restless legs syndrome. Exp Neurol. 2020 Jan;323:113111
• All: 4 reference(s)