Pkhd1l1^{tm2d(EUCOMM)Hmgu}
Targeted Allele Detail

Summary

• Symbol: Pkhd1l1^{tm2d(EUCOMM)Hmgu}
• Name: polycystic kidney and hepatic disease 1-like 1; targeted mutation 2d, Helmholtz Zentrum Muenchen GmbH
• MGI ID: MGI:7785505
• Synonyms: Pkhd1l1^-
• Gene: Pkhd1l1 Location: Chr15:44320890-44464765 bp, + strand Genetic Position: Chr15, 16.91 cM, cytoband B3
• Alliance: Pkhd1l1^{tm2d(EUCOMM)Hmgu} page
• IMPC: Pkhd1l1 gene page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:359106
• Parent Cell Line: JM8A3.N1.C2 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The L1L2_Bact_P cassette was inserted at position 44352630 of Chromosome 15 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 44353212. 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:359106)

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 Pkhd1l1 Mutation: 240 strains or lines available

References

• Original: J:359106 Strelkova OS, et al., PKHD1L1 is required for stereocilia bundle maintenance, durable hearing function and resilience to noise exposure. Commun Biol. 2024 Nov 1;7(1):1423
• All: 1 reference(s)