Twnk Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Twnk
twinkle mtDNA helicase
MGI:2137410

23 phenotypes from 7 alleles in 5 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Tg(ACTB-Twnk)#Suom/0 involves: FVB/N	normal cellular phenotype	J:104378
Tg(ACTB-Twnk*)DSuom/0 involves: FVB/N	abnormal brain morphology	J:104378
	abnormal cellular respiration	J:104378
	abnormal DNA repair	J:104378
	abnormal mitochondrial morphology	J:104378
	abnormal muscle fiber morphology	J:104378
	normal behavior/neurological phenotype	J:104378
	increased mitochondrial fission	J:104378
	normal mortality/aging	J:104378
	normal muscle phenotype	J:104378
Tg(ACTB-Twnk*A360T)HSuom/0 involves: FVB/N	abnormal mitochondrial physiology	J:104378
	abnormal muscle fiber morphology	J:104378
	normal behavior/neurological phenotype	J:104378
	normal mortality/aging	J:104378
	normal muscle phenotype	J:104378
Tg(Th-Twnk*,-EGFP)2Gcor/0 involves: C57BL/6J	abnormal autophagy	J:188914
	abnormal cell physiology	J:188914
	abnormal mitochondrial morphology	J:188914
	abnormal mitochondrial physiology	J:188914
	decreased dopaminergic neuron number	J:188914
	impaired coordination	J:188914
	loss of dopaminergic neurons	J:188914
Tg(Twnk)1Lrsn/0 Not Specified	no abnormal phenotype detected	J:194965
Twnk^tm1.1Lrsn/Twnk^tm1.1Lrsn Tg(Ckmm-cre)5Khn/0 involves: C57BL/6 * FVB	abnormal mitochondrial morphology	J:194965
	abnormal respiratory electron transport chain	J:194965
	enlarged heart	J:194965
	premature death	J:194965
Twnk^tm1.2Lrsn/Twnk^tm1.2Lrsn involves: C57BL/6	abnormal embryo development	J:194965
	embryonic lethality between somite formation and embryo turning, complete penetrance	J:194965
	prenatal lethality, complete penetrance	J:194965

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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