Mmachc | methylmalonic aciduria cblC type, with homocystinuria

GeneMGI:1914346Synonyms: 1810037K07Rik

Physiological systems

21 / 24 physiological systems tested

12 Significantly impacted by the knock-out

 Homeostasis/metabolism Reproductive system Immune system Integument Embryo Growth/size/body region Limbs/digits/tail Vision/eye Respiratory system Craniofacial Mortality/aging Renal/urinary system

9 No significant impact

3 Not tested

Gene metrics:15Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
51Embryo tissues

Phenotypes

abnormal embryo size1 supporting datasetMmachctm1.1(NCOM)MfgchomozygoteE15.5N/A * 
pallor1 supporting datasetMmachctm1.1(NCOM)MfgchomozygoteE15.5N/A * 
abnormal craniofacial morphology1 supporting datasetMmachctm1.1(NCOM)MfgchomozygoteE15.5N/A * 
polydactyly1 supporting datasetMmachctm1.1(NCOM)MfgchomozygoteE15.5N/A * 
facial cleft1 supporting datasetMmachctm1.1(NCOM)MfgchomozygoteE15.5N/A * 
microphthalmia1 supporting datasetMmachctm1.1(NCOM)MfgchomozygoteE15.5N/A * 
preweaning lethality, incomplete penetrance2 supporting datasetsMmachctm1.1(NCOM)MfgchomozygoteEarly adultN/A * 
preweaning lethality, complete penetrance1 supporting datasetMmachctm1.1(NCOM)MfgchomozygoteEarly adultN/A * 
enlarged lymph nodes1 supporting datasetMmachctm1.1(NCOM)MfgcheterozygoteEarly adultN/A * 
abnormal eye morphology1 supporting datasetMmachctm1.1(NCOM)MfgchomozygoteE12.5N/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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Mmachctm1(NCOM)MfgcReporter-tagged deletion allele (with selection cassette)targeting vector
ES Cell
mouse
Mmachctm1.1(NCOM)MfgcReporter-tagged deletion allele (post Cre, with no selection cassette)mouse
Mmachctm299933(L1L2_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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