Atp1b1 | ATPase, Na+/K+ transporting, beta 1 polypeptide

GeneMGI:88108Synonyms: Atpb, Atpb-1, +1 more

Physiological systems

22 / 24 physiological systems tested

11 Significantly impacted by the knock-out

 Reproductive system Endocrine/exocrine gland Integument Embryo Growth/size/body region Nervous system Vision/eye Behavior/neurological Cardiovascular system Mortality/aging Craniofacial

11 No significant impact

2 Not tested

Gene metrics:23Significant phenotypes
1Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

increased startle reflex1 supporting datasetAtp1b1em1(IMPC)MbpheterozygoteEarly adult1.89x10-8 
preweaning lethality, complete penetrance3 supporting datasetsAtp1b1em1(IMPC)MbphomozygoteEarly adultN/A * 
shortened QRS complex duration1 supporting datasetAtp1b1em1(IMPC)MbpheterozygoteEarly adult2.01x10-5 
enlarged testis1 supporting datasetAtp1b1em1(IMPC)MbpheterozygoteEarly adultN/A * 
abnormal testis morphology1 supporting datasetAtp1b1em1(IMPC)MbpheterozygoteEarly adultN/A * 
persistence of hyaloid vascular system1 supporting datasetAtp1b1em1(IMPC)MbpheterozygoteEarly adult9.63x10-7 
abnormal neural tube morphology1 supporting datasetAtp1b1em1(IMPC)MbphomozygoteE9.5N/A * 
embryonic growth retardation1 supporting datasetAtp1b1em1(IMPC)MbphomozygoteE9.5N/A * 
abnormal pharyngeal arch morphology1 supporting datasetAtp1b1em1(IMPC)MbphomozygoteE9.5N/A * 
abnormal vitelline vasculature morphology1 supporting datasetAtp1b1em1(IMPC)MbphomozygoteE9.5N/A * 
* 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 Atp1b1 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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Atp1b1em1(IMPC)MbpInter-exon deletionmouse
Atp1b1tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
Atp1b1tm1a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Atp1b1tm1e(EUCOMM)WtsiTargeted, non-conditional alleleES Cell

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