Cdh23 | cadherin related 23 (otocadherin)

GeneMGI:1890219Synonyms: nmf181, bob, +7 more

Physiological systems

20 / 24 physiological systems tested

8 Significantly impacted by the knock-out

 Homeostasis/metabolism Immune system Adipose tissue Growth/size/body region Hematopoietic system Behavior/neurological Skeleton Mortality/aging

12 No significant impact

4 Not tested

Data collections

LacZ expression
Histopathology
Images
How IMPC generates data
Gene metrics:17Significant phenotypes
9Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

preweaning lethality, incomplete penetrance1 supporting datasetCdh23tm2b(EUCOMM)WtsihomozygoteEarly adultN/A * 
increased mean corpuscular hemoglobin1 supporting datasetCdh23tm2b(EUCOMM)WtsihomozygoteEarly adult3.37x10-5 
abnormal gait1 supporting datasetCdh23tm2b(EUCOMM)WtsihomozygoteEarly adult1.03x10-14 
decreased circulating glucose level1 supporting datasetCdh23tm2b(EUCOMM)WtsihomozygoteEarly adult7.18x10-5 
absent pinna reflex1 supporting datasetCdh23tm2b(EUCOMM)WtsihomozygoteEarly adult1.05x10-18 
increased circulating sodium level1 supporting datasetCdh23tm2b(EUCOMM)WtsihomozygoteEarly adult4.43x10-6 
impaired righting response1 supporting datasetCdh23tm2b(EUCOMM)WtsihomozygoteEarly adult2.69x10-14 
trunk curl1 supporting datasetCdh23tm2b(EUCOMM)WtsihomozygoteEarly adult7.25x10-20 
decreased fasting circulating glucose level1 supporting datasetCdh23tm2b(EUCOMM)WtsihomozygoteEarly adult2.79x10-15 
increased circulating chloride level1 supporting datasetCdh23tm2b(EUCOMM)WtsihomozygoteEarly adult1.08x10-10 
* 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 Cdh23 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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Cdh23em1HPoint Mutationmouse
Cdh23em2HPoint Mutationmouse
Cdh23em3(IMPC)HPoint Mutationmouse
Cdh23tm1(EGFP_CreERT2)WtsiReporter-tagged deletion allele (with selection cassette)ES Cell
Cdh23tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
Cdh23tm1a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Cdh23tm1e(EUCOMM)WtsiTargeted, non-conditional alleleES Cell
Cdh23tm2a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Cdh23tm2b(EUCOMM)WtsiReporter-tagged deletion allele (with selection cassette)mouse

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