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Symbol
Name
ID
Gja1
gap junction protein, alpha 1
MGI:95713
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Abnormality of dental enamel
Hypoplasia of dental enamel
Camptodactyly of finger
Joint contracture of the 5th finger
Joint contracture of the hand
Mandibular prognathia
Frontal bossing
Malar flattening
Craniofacial hyperostosis
Facial hyperostosis
Micrognathia
Hypoplasia of the maxilla
Craniofacial osteosclerosis
Calvarial osteosclerosis
Microcephaly
Macrocephaly
Parietal bossing
Brachycephaly
Sagittal craniosynostosis
Dolichocephaly
Scaphocephaly
Platybasia
Abnormality of the fontanelles or cranial sutures
Wormian bones
Cranial hyperostosis
Thin calvarium
Sclerosis of skull base
Club-shaped distal femur
Erlenmeyer flask deformity of the femurs
Broad phalanx of the toes
Metacarpal synostosis
Fused fourth and fifth metacarpals
Broad distal phalanx of finger
Absent distal interphalangeal creases
Enlarged proximal interphalangeal joints
Short distal phalanx of finger
Distal symphalangism of hands
Aplasia/Hypoplasia of the middle phalanges of the hand
Absent middle phalanx of 5th finger
Short middle phalanx of the 5th finger
Fifth finger distal phalanx clinodactyly
Preaxial hand polydactyly
Patchy sclerosis of finger phalanx
Symphalangism affecting the phalanges of the hand
Triphalangeal thumb
Short 5th finger
Clinodactyly of the 5th finger
Ulnar deviation of finger
Postaxial foot polydactyly
Short hallux
Preaxial foot polydactyly
Short toe
Sandal gap
Toe syndactyly
2-3 toe syndactyly
3-4 toe syndactyly
4-5 toe syndactyly
2-4 toe cutaneous syndactyly
Clinodactyly
Polydactyly
Mesoaxial polydactyly
Postaxial polydactyly
Brachydactyly
Syndactyly
Cutaneous finger syndactyly
1-5 finger complete cutaneous syndactyly
Finger syndactyly
1-5 finger syndactyly
3-4 finger syndactyly
4-5 finger syndactyly
Abnormality of the metaphysis
Metaphyseal dysplasia
Metaphyseal widening
Flared metaphysis
Short foot
Short palm
Small hand
Metatarsal synostosis
Abnormality of the metacarpal bones
Supernumerary metacarpal bones
6 metacarpals
Hip dislocation
Carpal synostosis
Cubitus valgus
Madelung deformity
Basal ganglia calcification
Cerebral calcification
Abnormal diaphysis morphology
Diaphyseal sclerosis
Broad long bones
Slender long bone
Abnormality of pelvic girdle bone morphology
Hip dysplasia
Abnormality of the thorax
Abnormality of the clavicle
Short ribs
Rib exostoses
Thickened ribs
Thin ribs
Decreased number of sternal ossification centers
Pectus excavatum
Narrow chest
Abnormality of the vertebral column
Abnormal form of the vertebral bodies
Vertebral hyperostosis
Hyperlordosis
Scoliosis
Osteopetrosis
Reduced bone mineral density
Abnormal cortical bone morphology
Joint hypermobility
Joint laxity
Skeletal dysplasia
Delayed skeletal maturation
Recurrent fractures
Disease(s) Associated with GJA1
craniometaphyseal dysplasia
Hallermann-Streiff syndrome
oculodentodigital dysplasia
syndactyly

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
Availability Mouse Genotype
Gja1tm1Kdr/Gja1tm1Kdr
Gja1M1Jrt/Gja1+
Gja1tm8Kwi/Gja1+
Tg(Pgk1-cre)1Lni/0  (conditional)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/31/2018
MGI 6.12
The Jackson Laboratory