Symbol
Name
ID

Dync1h1
dynein cytoplasmic 1 heavy chain 1
MGI:103147

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Decreased patellar reflex

Spastic tetraplegia

Frequent falls

Peripheral axonal neuropathy

Hypoplasia of the brainstem

Pachygyria

Frontal polymicrogyria

Focal cortical dysplasia

Hypoplasia of the corpus callosum

Cerebellar vermis hypoplasia

Delayed speech and language development

Intellectual disability

Hyporeflexia

Gait disturbance

Tip-toe gait

Waddling gait

Global developmental delay

Motor delay

Delayed ability to walk

Peripheral neuropathy

Seizure

Focal-onset seizure

Somatic sensory dysfunction

Distal sensory impairment

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

Mouse Phenotypes		abnormal motor neuron innervation pattern	decreased motor neuron number	motor neuron degeneration	abnormal neuromuscular synapse morphology	neuronal intranuclear inclusions	decreased spinal cord ventral horn cell number	abnormal axonal transport
Availability	Mouse Genotype	abnormal motor neuron innervation pattern	decreased motor neuron number	motor neuron degeneration	abnormal neuromuscular synapse morphology	neuronal intranuclear inclusions	decreased spinal cord ventral horn cell number	abnormal axonal transport
	Dync1h1^Cra1/Dync1h1^Cra1
	Dync1h1^Loa/Dync1h1^Loa
	Dync1h1^Cra1/Dync1h1⁺
	Dync1h1^Loa/Dync1h1⁺
	Dync1h1^tm1.1Sjki/Dync1h1⁺

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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