Aspm | abnormal spindle microtubule assembly

GeneMGI:1334448Synonyms: D330028K02Rik, MCPH5, +3 more

Physiological systems

17 / 24 physiological systems tested

4 Significantly impacted by the knock-out

 Homeostasis/metabolism Adipose tissue Growth/size/body region Hematopoietic system

13 No significant impact

7 Not tested

Data collections

LacZ expression
Histopathology
Images
How IMPC generates data
Gene metrics:6Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

increased total body fat amount1 supporting datasetAspmtm1a(KOMP)WtsihomozygoteEarly adult7.78x10-5 
decreased lean body mass1 supporting datasetAspmtm1a(KOMP)WtsihomozygoteEarly adult6.1x10-5 
increased circulating HDL cholesterol level1 supporting datasetAspmtm1a(KOMP)WtsihomozygoteEarly adult3.16x10-6 
increased circulating glycerol level1 supporting datasetAspmtm1a(KOMP)WtsihomozygoteEarly adult4.11x10-5 
thrombocytopenia1 supporting datasetAspmtm1a(KOMP)WtsihomozygoteEarly adult1.53x10-6 
increased circulating cholesterol level1 supporting datasetAspmtm1a(KOMP)WtsihomozygoteEarly adult2.03x10-5 
* 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 Aspm 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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Aspmtm1a(KOMP)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Aspmtm1e(KOMP)WtsiTargeted, non-conditional alleleES Cell

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