Hnf4a | hepatic nuclear factor 4, alpha

GeneMGI:109128Synonyms: Nuclear receptor 2A1, MODY1, +6 more

Physiological systems

22 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Homeostasis/metabolism Endocrine/exocrine gland Growth/size/body region Vision/eye Cardiovascular system

17 No significant impact

2 Not tested

Data collections

LacZ expression
Histopathology
Images
How IMPC generates data
Viability data
Body weight measurements
Embryo imaging data
Gene metrics:14Significant phenotypes
6Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

increased circulating cholesterol level1 supporting datasetHnf4atm1b(EUCOMM)HmguheterozygoteEarly adult7.53x10-12 
increased total retina thickness1 supporting datasetHnf4atm1b(EUCOMM)HmguheterozygoteEarly adult6.73x10-5 
enlarged thyroid gland2 supporting datasetsHnf4atm1b(EUCOMM)HmguheterozygoteLate adultN/A * 
increased circulating HDL cholesterol level1 supporting datasetHnf4atm1b(EUCOMM)HmguheterozygoteEarly adult6.85x10-13 
increased circulating calcium level1 supporting datasetHnf4atm1b(EUCOMM)HmguheterozygoteLate adult1.32x10-7 
increased circulating bilirubin level1 supporting datasetHnf4atm1b(EUCOMM)HmguheterozygoteEarly adult8.71x10-7 
decreased circulating creatinine level1 supporting datasetHnf4atm1b(EUCOMM)HmguheterozygoteLate adult6.95x10-7 
abnormal retina blood vessel morphology1 supporting datasetHnf4atm1b(EUCOMM)HmguheterozygoteEarly adult1.21x10-8 
abnormal retina vasculature morphology1 supporting datasetHnf4atm1b(EUCOMM)HmguheterozygoteEarly adult2.17x10-9 
increased circulating cholesterol level1 supporting datasetHnf4atm1b(EUCOMM)HmguheterozygoteLate adult1.63x10-6 
* 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 Hnf4a 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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Hnf4atm1(EGFP/cre/ERT2)WtsiReporter-tagged deletion allele (with selection cassette)ES Cell
mouse
Hnf4atm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Hnf4atm1a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Hnf4atm1b(EUCOMM)HmguReporter-tagged deletion allele (with selection cassette)mouse
Hnf4atm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell
Hnf4atm1e(EUCOMM)WtsiTargeted, non-conditional alleleES Cell

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