Symbol
Name
ID

Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
MGI:1341830

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Genu valgum

Cone-shaped epiphyses of the phalanges of the hand

Ivory epiphyses of the phalanges of the hand

Shortening of all middle phalanges of the fingers

Ivory epiphyses of the toes

Coxa valga

Irregular tarsal ossification

Metaphyseal dysplasia

Carpal bone hypoplasia

Hip dislocation

Hip subluxation

Irregular carpal bones

Epiphyseal dysplasia

Flattened epiphysis

Small epiphyses

Narrow iliac wing

Barrel-shaped chest

Hyperlordosis

Hypoplasia of the odontoid process

Irregular vertebral endplates

Platyspondyly

Osteoporosis

Skeletal dysplasia

Multiple epiphyseal dysplasia

Disease(s) Associated with EIF2AK3

Wolcott-Rallison syndrome

Mouse Phenotypes

increased osteoblast apoptosis

abnormal osteoblast physiology

abnormal skeleton morphology

abnormal axial skeleton morphology

abnormal vertebrae development

abnormal vertebral body morphology

abnormal compact bone morphology

decreased compact bone thickness

abnormal osteoblast morphology

osteoporosis

decreased bone mineralization

Availability

Mouse Genotype

Eif2ak3^tm1Drc/Eif2ak3^tm1Drc

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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