Gene Summary

Name:
PITPNM family member 3
Synonyms:
A330068P14Rik,  Ackr6

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal bone structure Pitpnm3em1(IMPC)Bay HOM Early adult 1.83×10-13
increased bone mineral content Pitpnm3em1(IMPC)Bay HOM Early adult 3.18×10-16

Download data as:  TSV  XLS

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.

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Pitpnm3 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.

The table below shows human diseases associated to Pitpnm3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cone Rod Dystrophy
ORPHA:1872
Cone-Rod Dystrophy 5
OMIM:600977

The table below shows human diseases predicted to be associated to Pitpnm3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Cone Rod Dystrophy
ORPHA:1872
Cone-Rod Dystrophy 5
OMIM:600977

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 Pitpnm3

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 Pitpnm3.

No publications found that use IMPC mice or data for Pitpnm3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pitpnm3em1(IMPC)Bay Exon Deletion Mice
Pitpnm3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pitpnm3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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