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Symbol
Name
ID

Twnk
twinkle mtDNA helicase
MGI:2137410

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Elevated circulating alanine aminotransferase concentration	Elevated circulating aspartate aminotransferase concentration	Diabetes mellitus	Increased circulating lactate concentration	Elevated circulating follicle stimulating hormone level	Elevated circulating luteinizing hormone level	Increased circulating gonadotropin level	Decreased serum estradiol	Exercise intolerance
Disease(s) Associated with TWNK	Elevated circulating alanine aminotransferase concentration		Diabetes mellitus	Increased circulating lactate concentration	Elevated circulating follicle stimulating hormone level	Elevated circulating luteinizing hormone level	Increased circulating gonadotropin level	Decreased serum estradiol	Exercise intolerance
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
mitochondrial DNA depletion syndrome 7
Perrault syndrome

Mouse Phenotypes		abnormal autophagy	abnormal DNA repair
Availability	Mouse Genotype	abnormal autophagy	abnormal DNA repair
	Tg(ACTB-Twnk*)DSuom/0
	Tg(Th-Twnk*,-EGFP)2Gcor/0

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/30/2024 MGI 6.23