Pdha1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Pdha1
pyruvate dehydrogenase E1 alpha 1
MGI:97532

34 phenotypes from 2 alleles in 4 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Pdha1^tm1.1Ptl/Y involves: 129P2/OlaHsd * FVB/N	decreased embryo size	J:74192
	embryonic growth retardation	J:74192
	embryonic lethality, complete penetrance	J:74192
Pdha1^tm1.1Ptl/Pdha1^tm1.1Ptl involves: 129P2/OlaHsd * FVB/N	decreased embryo size	J:74192
	embryonic growth retardation	J:74192
	embryonic lethality, complete penetrance	J:74192
Pdha1^tm1Ptl/Pdha1⁺ Tg(Ckmm-cre)5Khn/0 involves: 129P2/OlaHsd * FVB	abnormal heart left ventricle morphology	J:141289
	decreased cardiac muscle contractility	J:141289
	increased body weight	J:141289
	increased circulating insulin level	J:141289
	increased heart weight	J:141289
	increased myocardial fiber size	J:141289
Pdha1^tm1Ptl/Pdha1^tm1Ptl Tg(Nes-cre)1Kln/0 involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL	abnormal brain white matter morphology	J:94805
	abnormal cerebellar granule layer morphology	J:94805
	abnormal cerebellar molecular layer	J:94805
	abnormal cerebellar peduncle morphology	J:94805
	abnormal cerebellum deep nucleus morphology	J:94805
	abnormal cerebral cortex pyramidal cell morphology	J:94805
	abnormal neocortex morphology	J:94805
	abnormal olfactory tract morphology	J:94805
	abnormal paraventricular thalamic nucleus morphology	J:94805
	abnormal putamen morphology	J:94805
	abnormal thalamus morphology	J:94805
	decreased brain weight	J:94805
	decreased corpus callosum size	J:94805
	decreased Purkinje cell number	J:94805
	decreased stria medullaris size	J:94805
	prenatal lethality, incomplete penetrance	J:94805
	small cerebellum	J:94805
Pdha1^tm1Ptl/Pdha1^tm1Ptl Tg(Zp3-cre)93Knw/0 involves: 129P2/OlaHsd * C57BL/6J	abnormal female meiosis	J:123893
	abnormal meiotic spindle morphology	J:123893
	abnormal oocyte morphology	J:123893
	abnormal polar body morphology	J:123893
	female infertility	J:123893
Pdha1^tm1Ptl/Y Tg(Ckmm-cre)5Khn/0 involves: 129P2/OlaHsd * FVB	abnormal heart left ventricle morphology	J:141289
	decreased cardiac muscle contractility	J:141289
	heart left ventricle hypertrophy	J:141289
	increased body weight	J:141289
	increased circulating insulin level	J:141289
	increased heart weight	J:141289
	increased myocardial fiber size	J:141289
	premature death	J:141289
Pdha1^tm1Ptl/Y Tg(Nes-cre)1Kln/0 involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL	prenatal lethality, complete penetrance	J:94805

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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