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Symbol
Name
ID
Klhl40
kelch-like 40
MGI:1919580
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Facial palsy
Flexion contracture
Muscle weakness
Nemaline bodies
Myofibrillar myopathy
Disease(s) Associated with KLHL40
nemaline myopathy 8

Mouse Phenotypes
increased skeletal muscle cell apoptosis
abnormal sarcomere morphology
abnormal Z line morphology
decreased skeletal muscle fiber size
abnormal skeletal muscle morphology
abnormal muscle physiology
impaired skeletal muscle contractility
muscle weakness
myopathy
Availability Mouse Genotype
Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Klhl40tm1.1Itl/Klhl40tm1.1Itl

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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory