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Symbol
Name
ID
Kcnj2
potassium inwardly-rectifying channel, subfamily J, member 2
MGI:104744
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Scaphocephaly
Short mandibular rami
Micrognathia
Antegonial notching of mandible
Hypoplasia of the maxilla
Prominent frontal sinuses
Malar flattening
Microcephaly
Enamel hypoplasia
Clinodactyly of the 5th finger
Short phalanx of finger
Small finger
Clinodactyly of the 5th toe
Toe syndactyly
2-3 toe syndactyly
Brachydactyly
Short metatarsal
Short foot
Short metacarpal
Short palm
Small hand
Scapular winging
Joint hypermobility
Delayed skeletal maturation
Slender long bone
Scoliosis
Disease(s) Associated with KCNJ2
Andersen-Tawil syndrome

Mouse Phenotypes
decreased maxillary shelf size
narrow maxilla
small vomer bone
abnormal intramembranous bone ossification
Availability Mouse Genotype
Kcnj2tm1Swz/Kcnj2tm1Swz
Kcnj2tm1Swz/Kcnj2+

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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory