Stxbp1^{tm1d(EUCOMM)Hmgu}
Targeted Allele Detail

Summary

• Symbol: Stxbp1^{tm1d(EUCOMM)Hmgu}
• Name: syntaxin binding protein 1; targeted mutation 1d, Helmholtz Zentrum Muenchen GmbH
• MGI ID: MGI:6437193
• Gene: Stxbp1 Location: Chr2:32677619-32737249 bp, - strand Genetic Position: Chr2, 22.09 cM
• Alliance: Stxbp1^{tm1d(EUCOMM)Hmgu} page

Mutation origin

• Mutant Cell Line: HEPD0510_5_A09
• Germline Transmission: Earliest citation of germline transmission: J:287370
• Parent Cell Line: JM8.N4 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion Vector: L1L2_Bact_P
• Mutation details: The L1L2_Bact_P cassette was inserted at position 32704614 of Chromosome 2 upstream of the critical exon 7 (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 7 at position 32705519. The critical exon 7 is thus flanked by loxP sites. A null/knock-out allele was created by flp and cre recombinase expression in mice carrying this allele to remove the lacZ sequence, neo selection cassette and the loxP-flanked critical exon 7. 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:287370)

Expression

In Mice Carrying this Mutation:

17 assay results

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 Stxbp1 Mutation: 47 strains or lines available

References

• Original: J:287370 Chen W, et al., Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy. Elife. 2020 Feb 19;9:e48705
• All: 1 reference(s)