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Symbol
Name
ID

Neb
nebulin
MGI:97292

Phenotype annotations related to muscle

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Weakness of facial musculature

Calf muscle pseudohypertrophy

Thenar muscle atrophy

Limb muscle weakness

Foot dorsiflexor weakness

Flexion contracture

Congenital contracture

Arthrogryposis multiplex congenita

Neonatal hypotonia

EMG: myopathic abnormalities

EMG: neuropathic changes

Easy fatigability

Frequent falls

Bulbar palsy

Late-onset distal muscle weakness

Generalized muscle weakness

Neck flexor weakness

Proximal muscle weakness

Respiratory insufficiency due to muscle weakness

Type 1 muscle fiber predominance

Increased variability in muscle fiber diameter

Nemaline bodies

Muscle fiber splitting

Rimmed vacuoles

Skeletal muscle atrophy

Sternocleidomastoid amyotrophy

Fatty replacement of skeletal muscle

Disease(s) Associated with NEB

arthrogryposis multiplex congenita-6

nemaline myopathy 2

Mouse Phenotypes

muscle phenotype

decreased quadriceps weight

abnormal muscle fiber morphology

abnormal sarcomere morphology

abnormal A band morphology

abnormal H zone morphology

abnormal I band morphology

abnormal Z line morphology

abnormal skeletal muscle fiber morphology

abnormal skeletal muscle fiber size

decreased skeletal muscle fiber size

decreased skeletal muscle fiber diameter

increased variability of skeletal muscle fiber size

increased skeletal muscle fiber number

decreased skeletal muscle weight

abnormal skeletal muscle fiber type ratio

abnormal muscle physiology

abnormal muscle contractility

impaired skeletal muscle contractility

abnormal muscle electrophysiology

muscle weakness

progressive muscle weakness

Availability

Mouse Genotype

Neb^tm1(cre)Chen/Neb^tm1(cre)Chen

*

Neb^tm1.1Hgra/Neb^tm1.1Hgra

Neb^tm1Slbt/Neb^tm1Slbt

Neb^tm2.1Chen/Neb^tm2.1Chen

*

Neb^m1Anu/Neb^m2Anu

Neb^tm2Hgra/Neb^tm2Hgra
Tg(Ckmm-cre)5Khn/0 (conditional)

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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