Phenotypes associated with this allele

• Allele Symbol: Twnk^tm1.1Suom
• Allele Name: targeted mutation 1.1, Anu Suomalainen
• Allele ID: MGI:8226835
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Twnk^tm1.1Suom/Twnk^tm1.1Suom	involves: C57BL/6	MGI:8228094

Genotype
MGI:8228094

hm1

• Allelic Composition: Twnk^tm1.1Suom/Twnk^tm1.1Suom
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

environmentally induced seizures ( J:235406 )

♂ • 5 of 21 males at 6 months of age present with generalized epileptic seizures induced by handling

♂ • however, mice show no apparent motor or sensory defects

cellular

decreased mitochondrial DNA content ( J:235406 )

• decrease in mtDNA copy numbers in the liver, but not in other tissues

growth/size/body

weight loss ( J:235406 )

• mice weigh less from 9 months of age

homeostasis/metabolism

increased carbon dioxide production ( J:235406 )

• mice produce more CO2 at thermoneutral temperature at 17 months of age

increased oxygen consumption ( J:235406 )

• mice consume more oxygen at thermoneutral temperature at 17 months of age

liver/biliary system

abnormal hepatocyte morphology ( J:235406 )

• hepatocytes show degenerative vacuolization indicative of hepatopathy

• hepatocytes show decreased lipid content

muscle

abnormal muscle morphology ( J:235406 )

• muscle shows low amino acid levels

• muscle shows a dNTP pool imbalance with generally decreased concentrations of all dNTPs

nervous system

environmentally induced seizures ( J:235406 )

♂ • 5 of 21 males at 6 months of age present with generalized epileptic seizures induced by handling

♂ • however, mice show no apparent motor or sensory defects

abnormal Purkinje cell dendrite morphology ( J:235406 )

• cerebellar Purkinje neurons show reduced arborization of the dendritic trees

decreased Purkinje cell number ( J:235406 )

• cerebellar Purkinje neurons are decreased in number

abnormal hippocampal pyramidal neuron dendrite morphology ( J:235406 )

• the hippocampal pyramidal neuron layer in the CA1 region shows decreased neurite density and disorganization of the apical dendritic trees without a reduction in neuronal number

• however, other hippocampal regions, deep gray matter nuclei, and cortical neurons show no changes

neurodegeneration ( J:235406 )

• brains show progressive neurodegeneration at 19 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitochondrial DNA depletion syndrome 7		DOID:0080126	OMIM:271245	J:235406