Firrm | FIGNL1 interacting regulator of recombination and mitosis

GeneMGI:3590554Synonyms: Flip, BC055324

Physiological systems

22 / 24 physiological systems tested

3 Significantly impacted by the knock-out

 Homeostasis/metabolism Skeleton Mortality/aging

19 No significant impact

2 Not tested

Gene metrics:10Significant phenotypes
0Associated diseases
Expression examined in:46Adult tissues
21Embryo tissues

Phenotypes

preweaning lethality, complete penetrance1 supporting datasetFirrmtm1b(EUCOMM)HmguhomozygoteEarly adultN/A * 
decreased bone mineral density1 supporting datasetFirrmtm1a(EUCOMM)HmguheterozygoteEarly adult4.77x10-8 
increased circulating cholesterol level1 supporting datasetFirrmtm1a(EUCOMM)HmguheterozygoteEarly adult1.77x10-5 
increased circulating HDL cholesterol level1 supporting datasetFirrmtm1a(EUCOMM)HmguheterozygoteEarly adult2.27x10-5 
abnormal pelvic girdle bone morphology1 supporting datasetFirrmtm1b(EUCOMM)HmguheterozygoteEarly adult5.18x10-8 
abnormal bone mineralization1 supporting datasetFirrmtm1a(EUCOMM)HmguheterozygoteEarly adult1.33x10-8 
increased circulating alkaline phosphatase level1 supporting datasetFirrmtm1a(EUCOMM)HmguheterozygoteEarly adult1.93x10-5 
increased bone mineral content1 supporting datasetFirrmtm1a(EUCOMM)HmguheterozygoteEarly adult5.62x10-8 
decreased circulating glucose level1 supporting datasetFirrmtm1a(EUCOMM)HmguheterozygoteEarly adult1.22x10-5 
increased circulating amylase level1 supporting datasetFirrmtm1b(EUCOMM)HmguheterozygoteEarly adult3.71x10-5 
* 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

adrenal glandheterozygoten/a0% (0/2)0.7% (4/570)
aortaheterozygoten/a0% (0/2)0.19% (1/533)
boneheterozygoten/a0% (0/2)0% (0/394)
brainheterozygoten/a0% (0/2)0.86% (5/579)
brainstemheterozygoten/a0% (0/2)0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoten/a0% (0/2)0.22% (1/454)
cerebellumheterozygoten/a0% (0/2)0.56% (3/532)
cerebral cortexheterozygoten/a0% (0/2)0.41% (2/491)
esophagusheterozygoten/a0% (0/1)1.67% (7/419)
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Human diseases caused by Firrm 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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Firrmtm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
Firrmtm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Firrmtm1b(EUCOMM)HmguReporter-tagged deletion allele (with selection cassette)mouse
Firrmtm1c(EUCOMM)HmguWild type floxed exon (post-Flp)mouse
Firrmtm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell

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