Usp53 | ubiquitin specific peptidase 53

GeneMGI:2139607Synonyms: Sp6, Phxr3, +1 more

Physiological systems

17 / 24 physiological systems tested

7 Significantly impacted by the knock-out

 Homeostasis/metabolism Integument Hearing/vestibular/ear Nervous system Behavior/neurological Skeleton Cardiovascular system

10 No significant impact

7 Not tested

Gene metrics:13Significant phenotypes
1Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

increased circulating alkaline phosphatase level1 supporting datasetUsp53em1(IMPC)TcphomozygoteEarly adult8.15x10-14 
decreased prepulse inhibition7 supporting datasetsUsp53em1(IMPC)TcphomozygoteEarly adult2.47x10-82 
decreased bone mineral content2 supporting datasetsUsp53em1(IMPC)TcphomozygoteEarly adult1.41x10-14 
decreased bone mineral density1 supporting datasetUsp53em1(IMPC)TcphomozygoteEarly adult5.21x10-13 
abnormal auditory brainstem response6 supporting datasetsUsp53em1(IMPC)TcphomozygoteEarly adult2.77x10-9 
abnormal startle reflex1 supporting datasetUsp53em1(IMPC)TcphomozygoteEarly adult2x10-19 
prolonged PR interval1 supporting datasetUsp53em1(IMPC)TcphomozygoteEarly adult2.08x10-11 
increased circulating cholesterol level1 supporting datasetUsp53em1(IMPC)TcphomozygoteEarly adult1.78x10-5 
increased circulating bilirubin level1 supporting datasetUsp53em1(IMPC)TcphomozygoteEarly adult7.16x10-13 
decreased startle reflex1 supporting datasetUsp53em1(IMPC)TcphomozygoteEarly adult7.11x10-6 
* 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 Usp53 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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Usp53em1(IMPC)TcpExon Deletionmouse
Usp53tm2a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Usp53tm2e(EUCOMM)HmguTargeted, non-conditional alleleES Cell

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