Ankrd52 | ankyrin repeat domain 52

GeneMGI:2444029Synonyms: G431002C21Rik

Physiological systems

19 / 24 physiological systems tested

8 Significantly impacted by the knock-out

 Immune system Embryo Growth/size/body region Vision/eye Hematopoietic system Behavior/neurological Skeleton Mortality/aging

11 No significant impact

5 Not tested

Gene metrics:8Significant phenotypes
0Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

decreased bone mineral content1 supporting datasetAnkrd52em1(IMPC)JheterozygoteEarly adult6.3x10-5 
anophthalmia1 supporting datasetAnkrd52em1(IMPC)JhomozygoteE18.5N/A * 
microphthalmia1 supporting datasetAnkrd52em1(IMPC)JhomozygoteE18.5N/A * 
abnormal vocalization1 supporting datasetAnkrd52em1(IMPC)JheterozygoteEarly adult2.42x10-10 
abnormal embryo size1 supporting datasetAnkrd52em1(IMPC)JhomozygoteE18.5N/A * 
decreased grip strength1 supporting datasetAnkrd52em1(IMPC)JheterozygoteEarly adult1.72x10-5 
increased leukocyte cell number1 supporting datasetAnkrd52em1(IMPC)JheterozygoteEarly adult6.01x10-6 
preweaning lethality, complete penetrance1 supporting datasetAnkrd52em1(IMPC)JhomozygoteEarly adultN/A * 
abnormal embryo size1 supporting datasetAnkrd52em1(IMPC)JheterozygoteE18.5N/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

Human diseases caused by Ankrd52 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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Ankrd52em1(IMPC)JExon Deletionmouse
Ankrd52tm78068(L1L2_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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