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Gene: Pkhd1l1 MGI:2183153

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Gene Summary

Name:
polycystic kidney and hepatic disease 1-like 1
Synonyms:
D86 mRNA,  PKHDL1,  fibrocystin L

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

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Human diseases caused by Pkhd1l1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.
No human diseases associated to this gene by phenotypic similarity.

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pkhd1l1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pkhd1l1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
PKHD1L1 is a coat protein of hair-cell stereocilia and is required for normal hearing. Nature communications (August 2019) Pkhd1l1tm2e(EUCOMM)Hmgu PMC6707252

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MGI Allele Allele Type Produced
Pkhd1l1em1(IMPC)H Exon Deletion Mice
Pkhd1l1em2(IMPC)H Exon Deletion Mice
Pkhd1l1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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