Fancd2 | Fanconi anemia, complementation group D2

GeneMGI:2448480Synonyms: 2410150O07Rik

Physiological systems

21 / 24 physiological systems tested

6 Significantly impacted by the knock-out

 Homeostasis/metabolism Vision/eye Behavior/neurological Cardiovascular system Mortality/aging Renal/urinary system

15 No significant impact

3 Not tested

Gene metrics:11Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

increased circulating iron level1 supporting datasetFancd2em1(IMPC)HmguheterozygoteEarly adult5.08x10-5 
decreased locomotor activity1 supporting datasetFancd2em1(IMPC)HmguheterozygoteEarly adult1.49x10-5 
small kidney1 supporting datasetFancd2em1(IMPC)HmguheterozygoteEarly adultN/A * 
persistence of hyaloid vascular system1 supporting datasetFancd2em1(IMPC)HmguheterozygoteEarly adult1.17x10-6 
abnormal retina blood vessel morphology1 supporting datasetFancd2em1(IMPC)HmguheterozygoteEarly adult9.87x10-5 
preweaning lethality, complete penetrance1 supporting datasetFancd2em1(IMPC)HmguhomozygoteEarly adultN/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

Human diseases caused by Fancd2 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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Fancd2em1(IMPC)HmguExon Deletionmouse
Fancd2tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
Fancd2tm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Fancd2tm43555(L1L2_gt2)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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