Rnf31 | ring finger protein 31

GeneMGI:1934704Synonyms: Paul, HOIP

Physiological systems

19 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Embryo Growth/size/body region Nervous system Mortality/aging Cardiovascular system

14 No significant impact

5 Not tested

Gene metrics:7Significant phenotypes
2Associated diseases
Expression examined in:73Adult tissues
29Embryo tissues

Phenotypes

preweaning lethality, incomplete penetrance1 supporting datasetRnf31tm1b(KOMP)WtsihomozygoteEarly adultN/A * 
abnormal embryo size1 supporting datasetRnf31tm1b(KOMP)WtsihomozygoteE9.5N/A * 
abnormal embryo size1 supporting datasetRnf31tm1b(KOMP)WtsiheterozygoteE9.5N/A * 
prenatal lethality prior to heart atrial septation1 supporting datasetRnf31tm1b(KOMP)WtsihomozygoteE15.5N/A * 
increased heart weight2 supporting datasetsRnf31tm1b(KOMP)WtsiheterozygoteEarly adult8.88x10-6 
abnormal hindbrain development1 supporting datasetRnf31tm1b(KOMP)WtsihomozygoteE9.5N/A * 
embryonic growth retardation1 supporting datasetRnf31tm1b(KOMP)WtsiheterozygoteE9.5N/A * 
embryonic growth retardation1 supporting datasetRnf31tm1b(KOMP)WtsihomozygoteE9.5N/A * 
increased body length1 supporting datasetRnf31tm1b(KOMP)WtsiheterozygoteEarly adult8.87x10-5 
* 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 glandheterozygoteSection images
50% (1/2)0.7% (4/570)
aortaheterozygoteSection images
100% (2/2)0.19% (1/533)
bloodheterozygoten/a0% (0/2)0% (0/17)
bone marrowheterozygoten/a0% (0/2)0% (0/22)
brainheterozygoten/a100% (2/2)0.86% (5/579)
brainstemheterozygoten/an/a0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoten/an/a0.22% (1/454)
cecumheterozygoten/a0% (0/1)7.75% (22/284)
cerebellumheterozygoteSection images
100% (2/2)0.56% (3/532)
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Human diseases caused by Rnf31 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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Rnf31tm1a(KOMP)WtsiKO first allele (reporter-tagged insertion with conditional potential)‌targeting vector
ES Cell
mouse
Rnf31tm1b(KOMP)WtsiReporter-tagged deletion allele (with selection cassette)‌mouse
Rnf31tm1e(KOMP)WtsiTargeted, non-conditional allele‌ES Cell
Rnf31tm2a(KOMP)WtsiKO first allele (reporter-tagged insertion with conditional potential)‌targeting vector
ES Cell
Rnf31tm2e(KOMP)WtsiTargeted, non-conditional allele‌ES Cell

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