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Symbol
Name
ID
Polr3a
polymerase (RNA) III (DNA directed) polypeptide A
MGI:2681836
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Frontal bossing
Parietal bossing
Brachycephaly
Cranial asymmetry
Thickened calvaria
Micrognathia
Retrognathia
Malar flattening
Hypoplastic facial bones
Dandy-Walker malformation
Macrocephaly
Relative macrocephaly
Delayed closure of the anterior fontanelle
Widely patent fontanelles and sutures
Short neck
Genu varum
Thin long bone diaphyses
Camptodactyly of finger
Long fingers
Long toe
2-3 toe syndactyly
Clinodactyly
Short femur
Short humerus
Flexion contracture
Joint hypermobility
Slender long bone
Hypoplastic ilia
Hip dysplasia
Thin ribs
Narrow chest
Kyphoscoliosis
Scoliosis
Cervical vertebral dysplasia
Irregular sclerotic endplates
Hypoplastic vertebral bodies
Atlantoaxial abnormality
Osteopenia
Synovitis
Disease(s) Associated with POLR3A
Wiedemann-Rautenstrauch syndrome

Mouse Phenotypes
increased bone mineral content
Availability Mouse Genotype
Polr3aem2(IMPC)Tcp/Polr3a+

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
04/30/2024
MGI 6.23
The Jackson Laboratory