Mapkbp1^{tm1d(EUCOMM)Hmgu}
Targeted Allele Detail

Summary

• Symbol: Mapkbp1^{tm1d(EUCOMM)Hmgu}
• Name: mitogen-activated protein kinase binding protein 1; targeted mutation 1d, Helmholtz Zentrum Muenchen GmbH
• MGI ID: MGI:6188920
• Synonyms: Mapkbp1 KO
• Gene: Mapkbp1 Location: Chr2:119803180-119857889 bp, + strand Genetic Position: Chr2, 60.03 cM, cytoband E5
• Alliance: Mapkbp1^{tm1d(EUCOMM)Hmgu} page
• IMPC: Mapkbp1 gene page

Mutation origin

• Mutant Cell Line: HEPD0507_9_H02
• Germline Transmission: Earliest citation of germline transmission: J:262822
• Parent Cell Line: JM8.N4 (ES Cell)
• Strain of Origin: C57BL/6N
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion Vector: L1L2_Bact_P
• Mutation details: The L1L2_Bact_P cassette was inserted at position 119828541 of Chromosome 2 upstream of the critical exon(s) (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(s) at position 119829302. The critical exon(s) is/are thus flanked by loxP sites. A null/knockout 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(s). 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:262822)

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 Mapkbp1 Mutation: 60 strains or lines available

References

• Original: J:262822 Macia MS, et al., Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 Feb 2;100(2):323-333
• All: 1 reference(s)