Abtb1 | ankyrin repeat and BTB domain containing 1

GeneMGI:1933148Synonyms: EF1ABP, BPOZ

Physiological systems

21 / 24 physiological systems tested

6 Significantly impacted by the knock-out

 Homeostasis/metabolism Immune system Integument Growth/size/body region Hematopoietic system Cardiovascular system

15 No significant impact

3 Not tested

Data collections

LacZ expression
Histopathology
Images
How IMPC generates data
Gene metrics:6Significant phenotypes
0Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

abnormal skin morphology1 supporting datasetAbtb1em1(IMPC)CcpczhomozygoteEarly adult4.08x10-5 
abnormal heart morphology1 supporting datasetAbtb1em1(IMPC)CcpczhomozygoteEarly adultN/A * 
increased fasting circulating glucose level1 supporting datasetAbtb1em1(IMPC)CcpczhomozygoteEarly adult6.15x10-5 
enlarged heart1 supporting datasetAbtb1em1(IMPC)CcpczhomozygoteEarly adultN/A * 
enlarged spleen1 supporting datasetAbtb1em1(IMPC)CcpczhomozygoteEarly adultN/A * 
abnormal spleen morphology1 supporting datasetAbtb1em1(IMPC)CcpczhomozygoteEarly 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 Abtb1 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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Abtb1em1(IMPC)CcpczIntra-exon deletionmouse
Abtb1tm95114(L1L2_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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