Ift43 | intraflagellar transport 43

GeneMGI:1923661Synonyms: 1700019E19Rik

Physiological systems

20 / 24 physiological systems tested

6 Significantly impacted by the knock-out

 Homeostasis/metabolism Embryo Nervous system Cardiovascular system Mortality/aging Craniofacial

14 No significant impact

4 Not tested

Gene metrics:16Significant phenotypes
4Associated diseases
Expression examined in:50Adult tissues
62Embryo tissues

Phenotypes

increased circulating cholesterol level1 supporting datasetIft43tm1b(EUCOMM)HmguheterozygoteEarly adult1.81x10-8 
increased circulating creatinine level1 supporting datasetIft43tm1b(EUCOMM)HmguheterozygoteEarly adult8.6x10-11 
abnormal neural tube closure1 supporting datasetIft43tm1b(EUCOMM)HmguhomozygoteE9.5N/A * 
abnormal forebrain development1 supporting datasetIft43tm1b(EUCOMM)HmguhomozygoteE9.5N/A * 
preweaning lethality, complete penetrance3 supporting datasetsIft43tm1b(EUCOMM)HmguhomozygoteEarly adultN/A * 
abnormal embryo turning1 supporting datasetIft43tm1b(EUCOMM)HmguhomozygoteE9.5N/A * 
increased circulating total protein level1 supporting datasetIft43tm1b(EUCOMM)HmguheterozygoteEarly adult7.37x10-5 
abnormal neural tube morphology1 supporting datasetIft43tm1b(EUCOMM)HmguhomozygoteE9.5N/A * 
abnormal pharyngeal arch morphology1 supporting datasetIft43tm1b(EUCOMM)HmguhomozygoteE9.5N/A * 
abnormal heart morphology1 supporting datasetIft43tm1b(EUCOMM)HmguhomozygoteE9.5N/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

adrenal glandheterozygoteWholemount images
100% (2/2)0.7% (4/570)
aortaheterozygoteWholemount images
100% (2/2)0.19% (1/533)
boneheterozygoteWholemount images
n/a0% (0/394)
brainheterozygoteWholemount images
100% (2/2)0.86% (5/579)
brainstemheterozygoteWholemount images
100% (2/2)0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoten/a100% (2/2)0.22% (1/454)
cerebellumheterozygoteWholemount images
100% (2/2)0.56% (3/532)
cerebral cortexheterozygoteWholemount images
100% (2/2)0.41% (2/491)
esophagusheterozygoten/a0% (0/2)1.67% (7/419)
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Human diseases caused by Ift43 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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Ift43tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
Ift43tm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Ift43tm1b(EUCOMM)HmguReporter-tagged deletion allele (with selection cassette)mouse
Ift43tm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell

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