Pkhd1l1^{tm2c(EUCOMM)Hmgu}
Targeted Allele Detail

Summary

• Symbol: Pkhd1l1^{tm2c(EUCOMM)Hmgu}
• Name: polycystic kidney and hepatic disease 1-like 1; targeted mutation 2c, Helmholtz Zentrum Muenchen GmbH
• MGI ID: MGI:6369356
• Synonyms: Pkhd1l1^fl
• Gene: Pkhd1l1 Location: Chr15:44320890-44464765 bp, + strand Genetic Position: Chr15, 16.91 cM, cytoband B3
• Alliance: Pkhd1l1^{tm2c(EUCOMM)Hmgu} page
• IMPC: Pkhd1l1 gene page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:280240
• Parent Cell Line: JM8A3.N1.C2 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutation: Insertion
• Mutation details: The L1L2_Bact_P cassette was inserted at position 44489234 of Chromosome 15 upstream of the critical exon 10 (Build GRCm38). 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 10 at position 44489816. The critical exon 10 is 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 10. 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:280240)

Expression

In Structures Affected by this Mutation:

1 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 Pkhd1l1 Mutation: 240 strains or lines available

References

• Original: J:280240 Wu X, et al., PKHD1L1 is a coat protein of hair-cell stereocilia and is required for normal hearing. Nat Commun. 2019 Aug 23;10(1):3801
• All: 1 reference(s)