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Pkhd1l1tm2c(EUCOMM)Hmgu
Targeted Allele Detail
Summary
Symbol: Pkhd1l1tm2c(EUCOMM)Hmgu
Name: polycystic kidney and hepatic disease 1-like 1; targeted mutation 2c, Helmholtz Zentrum Muenchen GmbH
MGI ID: MGI:6369356
Synonyms: Pkhd1l1fl
Gene: Pkhd1l1  Location: Chr15:44320890-44464765 bp, + strand  Genetic Position: Chr15, 16.91 cM, cytoband B3
Alliance: Pkhd1l1tm2c(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-Atm1Brd
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory