Phenotypes Associated with This Genotype

Genotype
MGI:6441736

• Allelic Composition: Dhtkd1^tm1Mmgu/Dhtkd1^tm1Mmgu
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

behavior/neurological

increased thermal nociceptive threshold ( J:288186 )

• mice show a longer latency in the hot plate test and the Von Frey test, indicating a sensory defect

• however, mice show no differences in locomotor performance on the treadmill or rotarod from wild-type mice

nervous system

abnormal axon morphology ( J:288186 )

• reduction in large caliber axons and an abundance of smaller caliber axons in sciatic nerve

decreased myelin sheath thickness ( J:288186 )

• thickness of the myelin sheath in sciatic nerve is reduced at 8 months of age

tomacula ( J:288186 )

• sciatic nerve shows myelin infoldings

axon degeneration ( J:288186 )

• axonal degeneration in the sciatic nerve

abnormal myelination ( J:288186 )

• double myelination of axons in the sciatic nerve

homeostasis/metabolism

decreased circulating cholesterol level ( J:288186 )

• total cholesterol level is decreased

decreased circulating glycerol level ( J:288186 )

• levels of diacylglycerol are decreased in blood serum

increased circulating phospholipid level ( J:288186 )

• levels of phosphatidic acid are increased in blood serum

decreased circulating triglyceride level ( J:288186 )

increased respiratory quotient ( J:288186 )

• the respiratory exchange ratio is elevated, indicating an elevated metabolic state

muscle

abnormal gastrocnemius morphology ( J:288186 )

• 12 month old mice show mitochondrial accumulation in gastrocnemius muscle and larger mitochondria

• however, myofibers in gastrocnemius muscle are normal size and no differences in the number of neuromuscular junctions or motor nerve conduction velocity

cellular

increased mitochondrial number ( J:288186 )

• 12 month old mice show mitochondrial accumulation in gastrocnemius muscle

• copy number of mitochondrial DNA is increased

increased mitochondrial size ( J:288186 )

• gastrocnemius muscle mitochondria are larger

limbs/digits/tail

abnormal gastrocnemius morphology ( J:288186 )

• 12 month old mice show mitochondrial accumulation in gastrocnemius muscle and larger mitochondria

• however, myofibers in gastrocnemius muscle are normal size and no differences in the number of neuromuscular junctions or motor nerve conduction velocity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease axonal type 2Q		DOID:0110170	OMIM:615025	J:288186