Symbol
Name
ID

Dync1h1
dynein cytoplasmic 1 heavy chain 1
MGI:103147

Phenotype annotations related to muscle

*	Aspects of the system are reported to show a normal phenotype.
!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes

Facial hypotonia

Proximal lower limb amyotrophy

Limb muscle weakness

Proximal muscle weakness in lower limbs

Spastic tetraplegia

Hypotonia

EMG: neuropathic changes

Difficulty running

Frequent falls

Distal muscle weakness

Type 2 muscle fiber predominance

Spinal muscular atrophy

Disease(s) Associated with DYNC1H1

autosomal dominant intellectual developmental disorder 13

Charcot-Marie-Tooth disease axonal type 2O

spinal muscular atrophy with lower extremity predominant 1

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 04/16/2024 MGI 6.23