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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Twnk
twinkle mtDNA helicase
MGI:2137410
58 phenotypes from 8 alleles in 7 genetic backgrounds
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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 amino acid metabolism J:235406
abnormal brain morphology J:104378
abnormal cellular respiration J:104378
abnormal DNA methylation J:235406
abnormal DNA repair J:104378
abnormal enzyme/coenzyme activity J:235406
abnormal homeostasis J:235406
abnormal liver morphology J:235406
abnormal mitochondrial morphology J:104378, J:235406
abnormal muscle fiber morphology J:104378
abnormal muscle morphology J:235406
abnormal nucleotide metabolism J:235406
abnormal skeletal muscle fiber morphology J:235406
normal behavior/neurological phenotype J:104378
increased amino acid betaine level J:235406
increased cardiac muscle cell glucose uptake J:235406
increased cystathionine level J:235406
increased glycine level J:235406
increased mitochondrial fission J:104378
increased serine level J:235406
increased skeletal muscle cell glucose uptake J:235406
increased threonine level J:235406
normal mortality/aging J:104378
normal muscle phenotype J:104378
myopathy J:235406
normal nervous system phenotype J:235406
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(Camk2a-cre)T29-1Stl/0
Twnktm1.1Suom/Twnktm1.1Suom
involves: BALB/c * C57BL * C57BL/6JOlaHsd 		normal cellular phenotype J:304258
decreased aspartic acid level J:304258
increased proline level J:304258
normal nervous system phenotype J:304258
Tg(Gfap-cre)73.12Mvs/0
Twnktm1.1Suom/Twnktm1.1Suom
involves: BALB/c * C57BL/6NHsd * C57BL/6JOlaHsd 		abnormal enzyme/coenzyme level J:304258
abnormal homeostasis J:304258
abnormal lipid metabolism J:304258
abnormal mitochondrial physiology J:304258
abnormal nucleotide metabolism J:304258
decreased aspartic acid level J:304258
gliosis J:304258
increased glycine level J:304258
increased physiological sensitivity to xenobiotic J:304258
increased proline level J:304258
increased serine level J:304258
increased susceptibility to xenobiotic induced morbidity/mortality J:304258
premature death J:304258
spongiform encephalopathy J:304258
weight loss J:304258
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
Twnktm1.1Lrsn/Twnktm1.1Lrsn
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
Twnktm1.1Suom/Twnktm1.1Suom
involves: C57BL/6 		abnormal hepatocyte morphology J:235406
abnormal hippocampal pyramidal neuron dendrite morphology J:235406
abnormal muscle morphology J:235406
abnormal Purkinje cell dendrite morphology J:235406
decreased mitochondrial DNA content J:235406
decreased Purkinje cell number J:235406
environmentally induced seizures J:235406
increased carbon dioxide production J:235406
increased oxygen consumption J:235406
neurodegeneration J:235406
weight loss J:235406
Twnktm1.2Lrsn/Twnktm1.2Lrsn
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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Send questions and comments to User Support. 		last database update
12/30/2025
MGI 6.24 		The Jackson Laboratory