Fa2h | fatty acid 2-hydroxylase

GeneMGI:2443327Synonyms: Faxdc1, G630055L08Rik

Physiological systems

20 / 24 physiological systems tested

10 Significantly impacted by the knock-out

 Homeostasis/metabolism Reproductive system Immune system Integument Endocrine/exocrine gland Growth/size/body region Vision/eye Hematopoietic system Behavior/neurological Renal/urinary system

10 No significant impact

4 Not tested

Gene metrics:17Significant phenotypes
3Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

abnormal skin morphology2 supporting datasetsFa2hem1(IMPC)MbphomozygoteEarly adultN/A * 
abnormal kidney morphology1 supporting datasetFa2hem1(IMPC)MbphomozygoteEarly adultN/A * 
enlarged kidney1 supporting datasetFa2hem1(IMPC)MbphomozygoteEarly adultN/A * 
abnormal spleen morphology1 supporting datasetFa2hem1(IMPC)MbphomozygoteEarly adultN/A * 
decreased circulating HDL cholesterol level1 supporting datasetFa2hem1(IMPC)MbphomozygoteEarly adult9.09x10-5 
abnormal coat/ hair morphology3 supporting datasetsFa2hem1(IMPC)MbphomozygoteEarly adult6.83x10-18 
abnormal vitreous body morphology1 supporting datasetFa2hem1(IMPC)MbphomozygoteEarly adult6.27x10-8 
decreased circulating cholesterol level1 supporting datasetFa2hem1(IMPC)MbphomozygoteEarly adult1.59x10-6 
abnormal testis morphology1 supporting datasetFa2hem1(IMPC)MbphomozygoteEarly adultN/A * 
increased freezing behavior1 supporting datasetFa2hem1(IMPC)MbphomozygoteEarly adult4.27x10-23 
* 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 Fa2h 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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Fa2hem1(IMPC)MbpExon Deletionmouse
Fa2htm1a(KOMP)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Fa2htm1e(KOMP)WtsiTargeted, non-conditional alleleES Cell
Fa2htm2a(KOMP)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Fa2htm2e(KOMP)WtsiTargeted, non-conditional alleleES Cell

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