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Symbol
Name
ID

Cryab
crystallin, alpha B
MGI:88516

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Facial diplegia

Leg muscle stiffness

Shoulder girdle muscle weakness

Foot dorsiflexor weakness

Lower limb muscle weakness

Quadriceps muscle weakness

Limb-girdle muscle weakness

Pelvic girdle muscle weakness

Hypertonia

Rigidity

EMG: myopathic abnormalities

Muscle stiffness

Axial muscle weakness

Distal muscle weakness

Progressive distal muscle weakness

Neck muscle weakness

Progressive proximal muscle weakness

Late-onset proximal muscle weakness

Respiratory insufficiency due to muscle weakness

Accumulation of muscle fiber desmin

Increased variability in muscle fiber diameter

Autophagic vacuoles

Muscle fiber inclusion bodies

Muscle fiber splitting

Skeletal muscle autophagosome accumulation

Muscular dystrophy

Disease(s) Associated with CRYAB

fatal infantile hypertonic myofibrillar myopathy

myofibrillar myopathy 2

Mouse Phenotypes

abnormal myocardium layer morphology

abnormal myocardial fiber morphology

increased myocardial fiber size

myocardium hypertrophy

decreased cardiac muscle contractility

decreased heart ventricle muscle contractility

decreased cardiac muscle relaxation

cardiomyopathy

abnormal Z line morphology

centrally nucleated skeletal muscle fibers

skeletal muscle fiber necrosis

skeletal muscle fibrosis

myopathy

Availability

Mouse Genotype

Cryab^em1Mtc/Cryab^em1Mtc

Cryab^tm1.1Ady/Cryab^tm1.1Ady

Cryab^tm1.1Ady/Cryab⁺

Tg(Myh6-Cryab*R120G)708Rbns/0

Tg(Myh6-CRYAB*R120G)7302Ijb/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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