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Symbol
Name
ID

Dhtkd1
dehydrogenase E1 and transketolase domain containing 1
MGI:2445096

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes	Distal lower limb muscle weakness	Hypotonia	Difficulty walking	Skeletal muscle atrophy
Disease(s) Associated with DHTKD1	Distal lower limb muscle weakness	Hypotonia	Difficulty walking	Skeletal muscle atrophy
2-aminoadipic 2-oxoadipic aciduria
Charcot-Marie-Tooth disease axonal type 2Q

Mouse Phenotypes		abnormal gastrocnemius morphology	abnormal sarcomere morphology	muscular atrophy	progressive muscle weakness
Availability	Mouse Genotype	abnormal gastrocnemius morphology	abnormal sarcomere morphology	muscular atrophy	progressive muscle weakness
	Dhtkd1^tm1Mmgu/Dhtkd1^tm1Mmgu
	Dhtkd1^tm1Zgwg/Dhtkd1^tm1Zgwg

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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