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Symbol
Name
ID 		Gja1
gap junction protein, alpha 1
MGI:95713
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Facial palsy
Photophobia
Spasticity
Spastic paraparesis
Cerebral calcification
Basal ganglia calcification
Abnormal cerebral white matter morphology
Aplasia/Hypoplasia of the cerebellum
Meningocele
Ataxia
Paraparesis
Tetraparesis
Delayed speech and language development
Dysarthria
Intellectual disability
Hyperreflexia
Hyperactive deep tendon reflexes
Gait disturbance
Global developmental delay
Mild global developmental delay
Delayed gross motor development
Seizure
Disease(s) Associated with GJA1
autosomal recessive craniometaphyseal dysplasia
erythrokeratodermia variabilis
oculodentodigital dysplasia
palmoplantar keratoderma and congenital alopecia 1

Mouse Phenotypes
nervous system phenotype
abnormal radial glial cell morphology
abnormal neural plate morphology
abnormal neural tube morphology
delayed neural tube closure
incomplete rostral neuropore closure
abnormal brain morphology
abnormal cortical ventricular zone morphology
abnormal cerebellar lobule formation
abnormal cerebellum external granule cell layer morphology
thin external granule cell layer
enlarged brain ventricles
enlarged lateral ventricles
collapsed brain ventricles
abnormal hippocampus morphology
abnormal dentate gyrus morphology
small hippocampus
abnormal cerebellum morphology
abnormal cerebellar cortex morphology
abnormal cerebellar Purkinje cell layer
delaminated Purkinje cell layer
abnormal cerebellar granule layer morphology
ectopic cerebellar granule cells
delaminated cerebellar granule layer
small cerebellum
abnormal postnatal subventricular zone morphology
abnormal nervous system development
exencephaly
abnormal somatic nervous system morphology
small trigeminal ganglion
abnormal facial nerve morphology
abnormal hypoglossal nerve morphology
abnormal oculomotor nerve morphology
absent trochlear nerve
abnormal spinal nerve morphology
abnormal glial cell physiology
Availability Mouse Genotype
Gja1tm1.1Gfi/Gja1tm1.1Gfi
Tg(CMV-Gja1)BClo/Tg(CMV-Gja1)BClo
Tg(CMV-Gja1)BClo/0
Gja1tm1Dlg/Gja1tm1Dlg
Tg(GFAP-cre)1Kdmc/0  (conditional)		 !
Gja1tm1Kwi/Gja1tm1Kwi
Tg(S100b-cre)20Ito/0  (conditional)		 *
Gja1tm1Gfi/Gja1tm1.1Gfi
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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Send questions and comments to User Support. 		last database update
05/21/2024
MGI 6.23 		The Jackson Laboratory