Symbol
Name
ID

Dhtkd1
dehydrogenase E1 and transketolase domain containing 1
MGI:2445096

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes	Microcephaly	Difficulty walking	Delayed speech and language development	Attention deficit hyperactivity disorder	Hyporeflexia	Global developmental delay	Mild global developmental delay	Somatic sensory dysfunction	Impaired distal vibration sensation
Disease(s) Associated with DHTKD1	Microcephaly	Difficulty walking	Delayed speech and language development	Attention deficit hyperactivity disorder	Hyporeflexia	Global developmental delay	Mild global developmental delay	Somatic sensory dysfunction	Impaired distal vibration sensation
2-aminoadipic 2-oxoadipic aciduria
Charcot-Marie-Tooth disease axonal type 2Q

Mouse Phenotypes

abnormal nervous system morphology

increased Schwann cell number

abnormal axon morphology

abnormal myelin sheath morphology

decreased myelin sheath thickness

tomacula

abnormal neuromuscular synapse morphology

abnormal sciatic nerve morphology

axon degeneration

abnormal Schwann cell physiology

abnormal myelination

demyelination

decreased nerve conduction velocity

Availability

Mouse Genotype

Dhtkd1^tm1Mmgu/Dhtkd1^tm1Mmgu

Dhtkd1^tm1Zgwg/Dhtkd1^tm1Zgwg

Dhtkd1^tm1Mmgu/Dhtkd1⁺

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23