|
Symbol Name ID |
Gja1
gap junction protein, alpha 1 MGI:95713 |
| Darker colors indicate more annotations |
| Human Phenotypes | Sparse scalp hair |
Frontal bossing |
Brachycephaly |
Cranial hyperostosis |
Facial hyperostosis |
Micrognathia |
Mandibular prognathia |
Hypoplasia of the maxilla |
Microcephaly |
Macrocephaly |
Wide cranial sutures |
Large fontanelles |
Coarse facial features |
Facial palsy |
High forehead |
Broad alveolar ridges |
Long philtrum |
Cleft upper lip |
Median cleft upper lip |
Non-midline cleft of the upper lip |
Thin vermilion border |
Cleft palate |
High palate |
Narrow mouth |
Taurodontia |
Macrodontia of permanent maxillary central incisor |
Microdontia |
Tooth agenesis |
Selective tooth agenesis |
Delayed eruption of teeth |
Delayed eruption of permanent teeth |
Abnormal dental enamel morphology |
Enamel hypoplasia |
Carious teeth |
Hypoplasia of teeth |
Hypoplasia of the primary teeth |
Premature loss of primary teeth |
Premature loss of teeth |
Dental crowding |
Dental malocclusion |
Abnormality of the nose |
Broad columella |
Low hanging columella |
Anteverted nares |
Underdeveloped nasal alae |
Depressed nasal ridge |
Narrow nasal bridge |
Wide nasal bridge |
Bony paranasal bossing |
Long nose |
Narrow nose |
Short nose |
Abnormal nasopharynx morphology |
Nasal congestion |
Absent eyebrow |
Sparse eyebrow |
Sparse eyelashes |
Blepharophimosis |
Short palpebral fissure |
Downslanted palpebral fissures |
Upslanted palpebral fissure |
Epicanthus |
Telecanthus |
| Disease(s) Associated with GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| autosomal recessive craniometaphyseal dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| erythrokeratodermia variabilis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| oculodentodigital dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| palmoplantar keratoderma and congenital alopecia 1 |
| Mouse Phenotypes | abnormal craniofacial morphology |
abnormal craniofacial bone morphology |
abnormal cranium morphology |
small cranium |
abnormal neurocranium morphology |
small frontal bone |
interparietal bone hypoplasia |
abnormal occipital bone morphology |
abnormal parietal bone morphology |
thin parietal bone |
abnormal alisphenoid bone morphology |
abnormal zygomatic arch morphology |
small neurocranium |
abnormal tooth morphology |
abnormal incisor morphology |
small lower incisors |
abnormal tooth development |
abnormal tooth hard tissue morphology |
reduced enamel thickness |
brittle teeth |
small mandible |
small maxilla |
abnormal nasal bone morphology |
small nasal bone |
short zygomatic bone |
small face |
depressed nasal bridge |
pointed snout |
small snout |
|
| Availability | Mouse Genotype | |||||||||||||||||||||||||||||
| Gja1tm1Kdr/Gja1tm1Kdr | ||||||||||||||||||||||||||||||
| Gja1M1Jrt/Gja1+ | ||||||||||||||||||||||||||||||
| Gja1tm8Kwi/Gja1+ Tg(Pgk1-cre)1Lni/0 (conditional) |
||||||||||||||||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/30/2024 MGI 6.23 |
|
|
|
||
Analysis Tools