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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Bud23
BUD23, rRNA methyltransferase and ribosome maturation factor
MGI:1913388
29 phenotypes from 3 alleles in 3 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Bud23em1Asil/Bud23+
involves: C57BL/6 * DBA/2 		abnormal enzyme/coenzyme activity J:290738
abnormal oxidative phosphorylation J:290738
normal growth/size/body region phenotype J:290738
normal homeostasis/metabolism phenotype J:290738
increased mitochondrial number J:290738
lethality throughout fetal growth and development, incomplete penetrance J:290738
Bud23em1Asil/Bud23em1Asil
involves: C57BL/6 * DBA/2 		embryonic lethality, complete penetrance J:290738
Bud23em2(IMPC)H/Bud23+
C57BL/6N-Bud23em2(IMPC)H/H 		decreased circulating glucose level J:211773
Bud23em2(IMPC)H/Bud23em2(IMPC)H
C57BL/6N-Bud23em2(IMPC)H/H 		embryonic lethality prior to organogenesis J:211773
preweaning lethality, complete penetrance J:211773
Bud23em2Asil/Bud23em2Asil
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * C57BL/6J * DBA/2 		abnormal enzyme/coenzyme activity J:290738
abnormal enzyme/coenzyme level J:290738
abnormal mitochondrial ATP synthesis coupled electron transport J:290738
abnormal mitochondrial morphology J:290738
abnormal oxidative phosphorylation J:290738
abnormal protein level J:290738
cardiac fibrosis J:290738
congestive heart failure J:290738
decreased cardiac muscle contractility J:290738
decreased mitochondrial number J:290738
decreased myocardial fiber mitochondrial DNA content J:290738
dilated cardiomyopathy J:290738
dilated heart left ventricle J:290738
dilated heart ventricle J:290738
enlarged heart J:290738
increased heart weight J:290738
oxidative stress J:290738
premature death J:290738
shortened QRS complex duration J:290738
shortened QT interval J:290738
thin ventricular wall J:290738
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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory