|
Symbol Name ID |
Gja1
gap junction protein, alpha 1 MGI:95713 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Brachycephaly |
Cranial hyperostosis |
Facial hyperostosis |
Micrognathia |
Mandibular prognathia |
Hypoplasia of the maxilla |
Microcephaly |
Macrocephaly |
Wide cranial sutures |
Large fontanelles |
Abnormal dental enamel morphology |
Enamel hypoplasia |
Abnormal diaphysis morphology |
Fifth finger distal phalanx clinodactyly |
Absent middle phalanx of 5th finger |
Short middle phalanx of the 5th finger |
Short 5th finger |
Clinodactyly of the 5th finger |
Joint contracture of the 5th finger |
Aplasia/Hypoplasia of the middle phalanges of the hand |
Camptodactyly of finger |
Hand polydactyly |
Preaxial hand polydactyly |
Patchy sclerosis of finger phalanx |
Flexion contracture of finger |
Tapered finger |
Short hallux |
Short toe |
Toe syndactyly |
3-4 toe syndactyly |
2-4 toe cutaneous syndactyly |
Clinodactyly |
Brachydactyly |
3-4 finger cutaneous syndactyly |
Finger syndactyly |
3-4 finger syndactyly |
4-5 finger syndactyly |
Club-shaped distal femur |
Short foot |
Abnormal metaphysis morphology |
Metaphyseal dysplasia |
Flared metaphysis |
Small hand |
Hip dislocation |
Cubitus valgus |
Madelung deformity |
Delayed skeletal maturation |
Broad long bones |
Abnormal thorax morphology |
Abnormal clavicle morphology |
Abnormal form of the vertebral bodies |
Vertebral hyperostosis |
Abnormal cortical bone morphology |
Hyperostosis |
Cerebral calcification |
Basal ganglia calcification |
| Disease(s) Associated with GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| autosomal recessive craniometaphyseal dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| erythrokeratodermia variabilis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| oculodentodigital dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| palmoplantar keratoderma and congenital alopecia 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| syndactyly type 3 |
| Mouse Phenotypes | abnormal osteoblast differentiation |
abnormal osteoblast physiology |
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 |
abnormal phalanx morphology |
abnormal skeleton morphology |
abnormal thoracic cage morphology |
abnormal rib morphology |
decreased bone mineral content |
decreased bone mineral density |
abnormal trabecular bone morphology |
decreased trabecular bone mass |
delayed endochondral bone ossification |
delayed intramembranous bone ossification |
delayed bone ossification |
decreased bone strength |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||||
| Gja1tm1Kdr/Gja1tm1Kdr | |||||||||||||||||||||||||||||||||||||||
| Gja1M1Jrt/Gja1+ | |||||||||||||||||||||||||||||||||||||||
| Gja1tm8Kwi/Gja1+ Tg(Pgk1-cre)1Lni/0 (conditional) |
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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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last database update 05/21/2024 MGI 6.23 |
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