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Gene: Atp6v1a MGI:1201780

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Gene Summary

Name:
ATPase, H+ transporting, lysosomal V1 subunit A
Synonyms:
lysosomal 70kDa,  VPP2,  Atp6a1,  VA68

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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
abnormal retina inner nuclear layer morphology Atp6v1aem1(IMPC)Bay HET Early adult 7.56×10-06
decreased exploration in new environment Atp6v1aem1(IMPC)Bay HET Early adult 7.10×10-06
preweaning lethality, complete penetrance Atp6v1aem1(IMPC)Bay 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.

Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Atp6v1a 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 Atp6v1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Attention deficit hyperactivity disorder, Optic atrophy, Retinal degeneration ORPHA:442835
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Psychomotor deterioration, Dementia, Subretinal pigment epithelium hemorrhage ORPHA:357074
Developmental And Epileptic Encephalopathy 93
Optic atrophy OMIM:618012
Cutis Laxa, Autosomal Recessive, Type Iid
OMIM:617403

The table below shows human diseases predicted to be associated to Atp6v1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Attention deficit hyperactivity disorder, Optic atrophy, Retinal degeneration ORPHA:442835
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Psychomotor deterioration, Dementia, Subretinal pigment epithelium hemorrhage ORPHA:357074
Developmental And Epileptic Encephalopathy 93
Optic atrophy OMIM:618012
Cutis Laxa, Autosomal Recessive, Type Iid
OMIM:617403

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 Atp6v1a

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 Atp6v1a.

No publications found that use IMPC mice or data for Atp6v1a.

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
Atp6v1atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atp6v1aem1(IMPC)Bay Exon Deletion Mice
Atp6v1atm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Atp6v1atm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atp6v1atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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