Hmbs Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Hmbs
hydroxymethylbilane synthase
MGI:96112

34 phenotypes from 6 alleles in 6 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Hmbs^tm1.1Rjde/Hmbs^tm1.1Rjde involves: 129/Sv * C57BL/6	abnormal brain morphology	J:275245
	abnormal liver morphology	J:275245
	abnormal myelination	J:275245
	abnormal urine homeostasis	J:275245
	ataxia	J:275245
	decreased body length	J:275245
	decreased body size	J:275245
	decreased body weight	J:275245
	decreased hydroxymethylbilane synthase level	J:275245
	decreased locomotor activity	J:275245
	decreased myelin sheath amount	J:275245
	delayed eyelid opening	J:275245
	impaired coordination	J:275245
	increased erythrocyte protoporphyrin level	J:275245
	jerky movement	J:275245
	limb grasping	J:275245
	motor developmental delay	J:275245
	porphyria	J:275245
	premature death	J:275245
	tremors	J:275245
Hmbs^tm1.1Rjde/Hmbs^tm2.1Rjde involves: 129/Sv * C57BL/6	cachexia	J:275245
	decreased body size	J:275245
	premature death	J:275245
Hmbs^{tm1b(EUCOMM)Hmgu}/Hmbs⁺ C57BL/6N-Hmbs^{tm1b(EUCOMM)Hmgu}/J	abnormal lens morphology	J:211773
	abnormal vitreous body morphology	J:211773
	hyperactivity	J:211773
	increased startle reflex	J:211773
Hmbs^{tm1b(EUCOMM)Hmgu}/Hmbs^{tm1b(EUCOMM)Hmgu} C57BL/6N-Hmbs^{tm1b(EUCOMM)Hmgu}/J	embryonic lethality prior to organogenesis	J:211773
	preweaning lethality, complete penetrance	J:211773
Hmbs^tm1Uam/Hmbs^tm1Uam C57BL/6-Hmbs^tm1Uam	prenatal lethality, complete penetrance	J:31572
Hmbs^tm2.1Rjde/Hmbs^tm2.1Rjde involves: 129/Sv * C57BL/6	prenatal lethality, complete penetrance	J:275245
Hmbs^tm2Uam/Hmbs^tm2Uam C57BL/6-Hmbs^tm2Uam	no abnormal phenotype detected	J:31572
Hmbs^tm2Uam/Hmbs^tm3Uam C57BL/6-Hmbs^tm2Uam/Hmbs^tm3Uam	abnormal axon morphology	J:31572
	abnormal brain morphology	J:275245
	abnormal liver morphology	J:275245
	abnormal locomotor activation	J:31572
	abnormal urine homeostasis	J:31572, J:275245
	ataxia	J:31572
	erythruria	J:31572
	porphyria	J:31572, J:275245
	short stride length	J:31572
	skeletal muscle degeneration	J:31572
Hmbs^tm3Uam/Hmbs^tm3Uam C57BL/6-Hmbs^tm3Uam	prenatal lethality, complete penetrance	J:31572

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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