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Gene: Atp6v1e1 MGI:894326

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Gene Summary

Name:
ATPase, H+ transporting, lysosomal V1 subunit E1
Synonyms:
D6Ertd385e,  H(+)-ATPase E-like protein,  Atp6v1e,  Atp6e,  E2,  2410029D23Rik,  lysosomal 31kDa,  H+ ATPase subunit E,  Atp6e2

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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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Atp6v1e1em1(IMPC)Rbrc HOM   Early adult 0.00

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Atp6v1e1 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 Atp6v1e1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cutis Laxa, Autosomal Recessive, Type Iic
OMIM:617402
Autosomal Recessive Cutis Laxa Type 2, Classic Type
ORPHA:357074

The table below shows human diseases predicted to be associated to Atp6v1e1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cutis Laxa, Autosomal Recessive, Type Iic
OMIM:617402
Autosomal Recessive Cutis Laxa Type 2, Classic Type
ORPHA:357074

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 Atp6v1e1

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 Atp6v1e1.

No publications found that use IMPC mice or data for Atp6v1e1.

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
Atp6v1e1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atp6v1e1em1(IMPC)Rbrc Exon Deletion Mice
Atp6v1e1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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