Hmbs | hydroxymethylbilane synthase

GeneMGI:96112Synonyms: porphobilinogen deaminase, Ups, +2 more

Physiological systems

17 / 24 physiological systems tested

3 Significantly impacted by the knock-out

 Vision/eye Behavior/neurological Mortality/aging

14 No significant impact

7 Not tested

Gene metrics:6Significant phenotypes
4Associated diseases
Expression examined in:48Adult tissues
25Embryo tissues

Phenotypes

increased startle reflex1 supporting datasetHmbstm1b(EUCOMM)HmguheterozygoteEarly adult5.58x10-5 
preweaning lethality, complete penetrance1 supporting datasetHmbstm1b(EUCOMM)HmguhomozygoteEarly adultN/A * 
embryonic lethality prior to organogenesis1 supporting datasetHmbstm1b(EUCOMM)HmguhomozygoteE9.5N/A * 
abnormal vitreous body morphology1 supporting datasetHmbstm1b(EUCOMM)HmguheterozygoteEarly adult9.4x10-6 
abnormal lens morphology1 supporting datasetHmbstm1b(EUCOMM)HmguheterozygoteEarly adult2.08x10-6 
hyperactivity1 supporting datasetHmbstm1b(EUCOMM)HmguheterozygoteEarly adult1.45x10-5 
* 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

Associated images

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Histopathology

IMPC related publications

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Hmbstm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Hmbstm1b(EUCOMM)HmguReporter-tagged deletion allele (with selection cassette)mouse
Hmbstm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell

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