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Symbol
Name
ID

Hspb8
heat shock protein 8
MGI:2135756

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes	Paresis of extensor muscles of the big toe	Distal lower limb muscle weakness	EMG: neuropathic changes	EMG: chronic denervation signs	Distal muscle weakness	Distal amyotrophy
Disease(s) Associated with HSPB8	Paresis of extensor muscles of the big toe	Distal lower limb muscle weakness	EMG: neuropathic changes	EMG: chronic denervation signs	Distal muscle weakness	Distal amyotrophy
autosomal dominant distal hereditary motor neuronopathy 2
Charcot-Marie-Tooth disease axonal type 2L

Mouse Phenotypes

abnormal myocardium layer morphology

decreased cardiac muscle contractility

decreased ventricle muscle contractility

cardiomyopathy

abnormal muscle fiber morphology

abnormal Z line morphology

abnormal skeletal muscle fiber morphology

skeletal muscle fiber degeneration

abnormal skeletal muscle morphology

muscular atrophy

myopathy

Availability

Mouse Genotype

Hspb8^tm1.1Depr/Hspb8^tm1.1Depr

Hspb8^tm1.1Vti/Hspb8^tm1.1Vti

Hspb8^tm1Vti/Hspb8^tm1Vti

Hspb8^tm1Vti/Hspb8⁺

Tg(Myh6*/tetO-Hspb8*K141N)#Atsa/0
Tg(Myh6-tTA)55Rbns/0

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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