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Phenotypes Associated with This Genotype
Genotype
MGI:6260058
Allelic
Composition
Dhtkd1tm1Zgwg/Dhtkd1tm1Zgwg
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dhtkd1tm1Zgwg mutation (0 available); any Dhtkd1 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 6 month old mice, but not 6 week old mice, tend to show decreases in retention time on the rotarod due to weak muscle strength
• mice exhibit reduced pain sensitivity as shown by a longer response time to hot stimulus in a hot plate test
• 6 month old mice, but not 6 week old mice, tend to show a decrease in running distance in the treadmill test

endocrine/exocrine glands
• insulin in islets is elevated
• insulin in islets in elevated

homeostasis/metabolism
• 6 month old mice, but not 6 week old mice, tend to show a decrease in running distance in the treadmill test
• insulin in islets in elevated
• mice exhibit lower glucose in an insulin tolerance test
• lower glucose is due to increased insulin secretion and increased insulin sensitivity
• mice exhibit elevated serum insulin levels under either fasting or refed conditions
• mice show increased insulin levels during a glucose tolerance test
• mice show increased glucose tolerance in an intraperitoneal glucose tolerance test
• urine 2-ketoadipic acid (2-KAA) levels are greatly increased in 16 week old mice
• urine 2-aminoadipic acid (2-AAA) levels are increased up to 120 times higher in 16 week old mutant mice than in wild-type mice

integument
• mice exhibit reduced pain sensitivity as shown by a longer response time to hot stimulus in a hot plate test

liver/biliary system

muscle
• sarcomere disorder or disappearance
• muscle atrophy in the distal parts of limbs
• gastrocnemius muscle shows elevated levels of atrophy-associated markers
• 6 month old mice, but not 6 week old mice, tend to show decreases in retention time on the rotarod and a decrease in running distance in the treadmill test, indicating weakened muscle strength

nervous system
• mice develop peripheral neuropathy
• sciatic nerves show irregular myelin sheath that becomes dissociated from axons
• mice exhibit an increase in the percentage of denervated neuromuscular junctions in gastrocnemius muscle
• sciatic nerves show reduced large myelinated fibers, loss of distal axons, increased aberrant myelin with unchanged fiber area and thickness of the myelin sheath, and decreased density of nerve fibers
• 6 month old mice show axon degeneration in sciatic nerves
• 6 week old mice mice challenged with acrylamide, an axonal neurotoxin that accelerates the progress of preexisting axonal degeneration, show decreased retention time on the rotarod and most mice treated with acrylamide fall off the rotarod even in the pretraining process, indicating that mice have axonal nerve damage
• marker analysis indicates that Schwann cells are functionally impaired
• 6 month old mice show myelin sheath degeneration in sciatic nerves
• motor nerve conduction and sensory nerve conduction velocity are decreased in the sciatic nerves of 6 month old mice

renal/urinary system
• urine 2-ketoadipic acid (2-KAA) levels are greatly increased in 16 week old mice
• urine 2-aminoadipic acid (2-AAA) levels are increased up to 120 times higher in 16 week old mutant mice than in wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease axonal type 2Q DOID:0110170 OMIM:615025
J:267178


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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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory