Atp6v1c1 | ATPase, H+ transporting, lysosomal V1 subunit C1

GeneMGI:1913585Synonyms: 1700025B18Rik

Physiological systems

19 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Immune system Nervous system Hematopoietic system Behavior/neurological Mortality/aging

14 No significant impact

5 Not tested

Gene metrics:7Significant phenotypes
0Associated diseases
Expression examined in:0Adult tissues
30Embryo tissues

Phenotypes

increased mean corpuscular volume1 supporting datasetAtp6v1c1tm1b(NCOM)MfgcheterozygoteEarly adult3.86x10-9 
increased leukocyte cell number1 supporting datasetAtp6v1c1tm1b(NCOM)MfgcheterozygoteEarly adult5.08x10-5 
decreased prepulse inhibition4 supporting datasetsAtp6v1c1tm1b(NCOM)MfgcheterozygoteEarly adult9.5x10-12 
embryonic lethality prior to organogenesis1 supporting datasetAtp6v1c1tm1b(NCOM)MfgchomozygoteE9.5N/A * 
preweaning lethality, complete penetrance3 supporting datasetsAtp6v1c1tm1b(NCOM)MfgchomozygoteEarly adultN/A * 
embryonic lethality prior to tooth bud stage1 supporting datasetAtp6v1c1tm1b(NCOM)MfgchomozygoteE12.5N/A * 
decreased exploration in new environment1 supporting datasetAtp6v1c1tm1b(NCOM)MfgcheterozygoteEarly adult2.61x10-6 
* Does not have a P-value assigned because it was manually marked as significant.
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* This parameter was manually assessed for significance.
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lacZ Expression

Human diseases caused by Atp6v1c1 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.






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Histopathology

IMPC related publications

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Atp6v1c1tm1a(NCOM)MfgcKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Atp6v1c1tm1b(NCOM)MfgcReporter-tagged deletion allele (with selection cassette)mouse

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