Pcmt1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Pcmt1
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
MGI:97502

28 phenotypes from 2 alleles in 2 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Pcmt1^tm1Scl/Pcmt1^tm1Scl involves: 129S4/SvJae * C57BL/6	abnormal cell physiology	J:40967
	abnormal homeostasis	J:40967
	increased susceptibility to pharmacologically induced seizures	J:40967
	postnatal growth retardation	J:40967
	premature death	J:40967
	tonic-clonic seizures	J:40967
Pcmt1^tm1Shs/Pcmt1^tm1Shs involves: 129P2/OlaHsd * C57BL/6	abnormal axon morphology	J:46228
	abnormal brain wave pattern	J:46228
	abnormal cell physiology	J:46228
	abnormal cerebral cortex pyramidal cell morphology	J:46228
	abnormal nervous system electrophysiology	J:46228
	clonic seizures	J:46228
	convulsive seizures	J:46228
	decreased body weight	J:46228
	decreased circulating cholesterol level	J:46228
	decreased circulating creatine kinase level	J:46228
	decreased circulating ferritin level	J:46228
	decreased circulating lactate dehydrogenase level	J:46228
	decreased circulating phosphate level	J:46228
	increased blood urea nitrogen level	J:46228
	increased brain size	J:46228
	increased brain weight	J:46228
	increased circulating aldosterone level	J:46228
	increased circulating corticosterone level	J:46228
	increased circulating triglyceride level	J:46228
	kyphosis	J:46228
	myoclonus	J:46228
	postnatal growth retardation	J:46228
	premature death	J:46228
	respiratory failure	J:46228
	small spleen	J:46228
	tonic-clonic seizures	J:46228

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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