Symbol
Name
ID

Gja1
gap junction protein, alpha 1
MGI:95713

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes	Facial palsy	Joint contracture of the 5th finger	Camptodactyly of finger	Flexion contracture of finger	Spasticity	Spastic paraparesis	Muscle weakness
Disease(s) Associated with GJA1	Facial palsy	Joint contracture of the 5th finger	Camptodactyly of finger	Flexion contracture of finger	Spasticity	Spastic paraparesis	Muscle weakness
autosomal recessive craniometaphyseal dysplasia
oculodentodigital dysplasia
palmoplantar keratoderma and congenital alopecia 1
syndactyly type 3

Mouse Phenotypes

abnormal myocardium layer morphology

abnormal myocardial trabeculae morphology

abnormal trabecula carnea morphology

thin myocardium compact layer

thin right ventricle myocardium compact layer

heart right ventricle hypertrophy

abnormal cardiac muscle contractility

decreased ventricle muscle contractility

abnormal vascular smooth muscle physiology

abnormal vascular smooth muscle cell proliferation

abnormal muscle regeneration

Availability

Mouse Genotype

Gja1^tm1.1Gfi/Gja1^tm1.1Gfi

Gja1^tm1Kdr/Gja1^tm1Kdr

Gja1^tm1Kdr/Gja1^tm1Kdr
Tg(CMV-Gja1)BClo/0

Gja1^tm3.1Clo/Gja1^tm3.1Clo

Gja1^W45X/Gja1^W45X

Tg(CMV-Gja1)BClo/Tg(CMV-Gja1)BClo

Gja1^M1Jrt/Gja1⁺

Gja1^tm1Kwi/Gja1^tm1Kwi (conditional)

Gja1^tm10Kwi/Gja1^tm10Kwi
Tg(Myh6-cre)2182Mds/0 (conditional)

Gja1^tm1Gfi/Gja1^tm1.1Gfi
Tg(Pax3-cre)1Joe/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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