Mmaa | methylmalonic aciduria (cobalamin deficiency) type A

GeneMGI:1923805Synonyms: 2810018E08Rik

Physiological systems

17 / 24 physiological systems tested

10 Significantly impacted by the knock-out

 Homeostasis/metabolism Reproductive system Pigmentation Integument Adipose tissue Growth/size/body region Hematopoietic system Behavior/neurological Skeleton Cardiovascular system

7 No significant impact

7 Not tested

Data collections

LacZ expression
Histopathology
Images
How IMPC generates data
Gene metrics:32Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

decreased thigmotaxis2 supporting datasetsMmaaem1(IMPC)JhomozygoteEarly adult6.4x10-5 
increased circulating alanine transaminase level1 supporting datasetMmaaem1(IMPC)JhomozygoteEarly adult3.68x10-6 
decreased locomotor activity8 supporting datasetsMmaaem1(IMPC)JhomozygoteEarly adult2.89x10-14 
increased circulating alkaline phosphatase level1 supporting datasetMmaaem1(IMPC)JhomozygoteEarly adult0 
decreased locomotor activity8 supporting datasetsMmaaem1(IMPC)JhomozygoteLate adult1.15x10-9 
thrombocytopenia1 supporting datasetMmaaem1(IMPC)JhomozygoteEarly adult1.37x10-11 
decreased bone mineral density1 supporting datasetMmaaem1(IMPC)JhomozygoteLate adult1.61x10-9 
increased mean corpuscular hemoglobin1 supporting datasetMmaaem1(IMPC)JhomozygoteEarly adult9.5x10-15 
decreased mean corpuscular hemoglobin concentration1 supporting datasetMmaaem1(IMPC)JhomozygoteEarly adult2.91x10-5 
female infertility1 supporting datasetMmaaem1(IMPC)JhomozygoteEarly 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

Associated images

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Histopathology

IMPC related publications

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Mmaaem1(IMPC)JExon Deletionmouse
Mmaatm1(KOMP)WtsiReporter-tagged deletion allele (with selection cassette)targeting vector
ES Cell

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