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Symbol
Name
ID

Ercc1
excision repair cross-complementing rodent repair deficiency, complementation group 1
MGI:95412

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes	Camptodactyly of finger	Flexion contracture of toe	Knee flexion contracture	Elbow flexion contracture	Wrist flexion contracture	Arthrogryposis multiplex congenita	Hypertonia	Generalized muscle weakness
Disease(s) Associated with ERCC1	Camptodactyly of finger	Flexion contracture of toe	Knee flexion contracture	Elbow flexion contracture	Wrist flexion contracture	Arthrogryposis multiplex congenita	Hypertonia	Generalized muscle weakness
cerebrooculofacioskeletal syndrome 4
multiple myeloma

Mouse Phenotypes		dystonia	decreased skeletal muscle mass
Availability	Mouse Genotype
	Ercc1^tm1Jhjh/Ercc1^tm1Jhjh

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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