Symbol
Name
ID

Runx2
runt related transcription factor 2
MGI:99829

Phenotype annotations related to skeleton

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Frontal bossing

Parietal bossing

Brachycephaly

Thickened calvaria

Micrognathia

Mandibular prognathia

Hypoplasia of the maxilla

Absent frontal sinuses

Hypoplastic frontal sinuses

Absent paranasal sinuses

Sinusitis

Hypoplasia of the zygomatic bone

Malar flattening

Large foramen magnum

Decreased skull ossification

Macrocephaly

Persistent open anterior fontanelle

Wormian bones

Large fontanelles

Abnormal dental enamel morphology

Enamel hypoplasia

Genu valgum

Short middle phalanx of the 2nd finger

Short middle phalanx of the 5th finger

Clinodactyly of the 5th finger

Cone-shaped epiphyses of the phalanges of the hand

Abnormal thumb morphology

Tapered finger

Brachydactyly

Coxa vara

Short femoral neck

Metaphyseal dysplasia

Flared metaphysis

Abnormal metacarpal morphology

Long second metacarpal

Short 5th metacarpal

Hip dislocation

Increased susceptibility to fractures

Recurrent fractures

Abnormal epiphysis morphology

Abnormal pelvic girdle bone morphology

Hypoplastic iliac wing

Hypoplastic inferior ilia

Delayed pubic bone ossification

Wide pubic symphysis

Down-sloping shoulders

Aplastic clavicle

Short clavicles

Abnormal facility in opposing the shoulders

Abnormal rib morphology

Short ribs

Cervical ribs

Hypoplastic scapulae

Narrow chest

Kyphosis

Scoliosis

Abnormal sacrum morphology

Platyspondyly

Multiple small vertebral fractures

Osteoporosis of vertebrae

Spondylolisthesis

Spondylolysis

Increased bone mineral density

Osteoporosis

Skeletal dysplasia

Disease(s) Associated with RUNX2

cleidocranial dysplasia

metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome

Mouse Phenotypes

skeleton phenotype

abnormal osteoblast differentiation

impaired osteoblast differentiation

abnormal osteoclast differentiation

increased osteoblast proliferation

abnormal craniofacial bone morphology

abnormal cranial suture morphology

wide cranial sutures

abnormal cranium morphology

small basisphenoid bone

abnormal neurocranium morphology

abnormal fontanelle morphology

large anterior fontanelle

abnormal interparietal bone morphology

interparietal bone hypoplasia

abnormal supraoccipital bone morphology

absent occipital bone

abnormal parietal bone morphology

parietal bone hypoplasia

absent zygomatic arch

abnormal hyoid bone morphology

hyoid bone hypoplasia

abnormal incisor morphology

small incisors

abnormal molar morphology

small molars

abnormal tooth development

abnormal dental lamina morphology

abnormal dental papilla morphology

abnormal cervical loop morphology

abnormal enamel knot morphology

arrest of tooth development

growth retardation of incisors

growth retardation of molars

abnormal dentin morphology

abnormal enamel morphology

abnormal nasal bone morphology

nasal bone hypoplasia

abnormal zygomatic bone morphology

increased osteoclast cell number

abnormal phalanx morphology

abnormal humerus morphology

absent deltoid tuberosity

abnormal radius morphology

abnormal ulna morphology

abnormal femur morphology

abnormal tibia morphology

decreased diameter of tibia

abnormal limb bone morphology

absent metacarpal bones

abnormal metatarsal bone morphology

abnormal skeleton morphology

abnormal clavicle morphology

absent clavicle

small clavicle

clavicle hypoplasia

abnormal long bone epiphyseal plate morphology

abnormal long bone epiphyseal ossification zone morphology

abnormal long bone epiphyseal plate proliferative zone

abnormal long bone hypertrophic chondrocyte zone

increased width of hypertrophic chondrocyte zone

abnormal long bone epiphysis morphology

decreased length of long bones

absent scapula

abnormal xiphoid process morphology

abnormal pelvic girdle bone morphology

ischium hypoplasia

pubis hypoplasia

abnormal rib morphology

short ribs

abnormal vertebrae morphology

abnormal vertebral arch morphology

absent vertebrae

abnormal bone structure

abnormal bone marrow cavity morphology

decreased bone mineral content

decreased bone mineral density of femur

decreased volumetric bone mineral density

decreased bone volume

abnormal compact bone morphology

decreased compact bone thickness

decreased osteoblast cell number

increased osteoblast cell number

decreased osteocyte number

abnormal trabecular bone morphology

decreased bone trabecula number

increased bone trabecular spacing

decreased trabecular bone thickness

decreased bone mass

abnormal cartilage morphology

abnormal cartilage development

abnormal chondrocyte morphology

abnormal skeleton development

abnormal bone ossification

abnormal bone mineralization

delayed endochondral bone ossification

delayed intramembranous bone ossification

delayed sagittal suture closure

delayed fontanelle closure

delayed bone ossification

fragile skeleton

Availability

Mouse Genotype

Runx2^tm1.1Jals/Runx2^tm1.1Jals

Runx2^tm1Gss/Runx2^tm1Gss

Runx2^tm1Hkiy/Runx2^tm1Hkiy

Runx2^tm1Jals/Runx2^tm1Jals

Runx2^tm1Kish/Runx2^tm1Kish

Runx2^tm1Ldq/Runx2^tm1Ldq

Runx2^tm1Mjo/Runx2^tm1Mjo

Runx2^{em1(IMPC)Rbrc}/Runx2⁺

Runx2^tm1Gss/Runx2⁺

Runx2^tm1Hkiy/Runx2⁺

Runx2^tm1Jals/Runx2⁺

Runx2^tm1Kish/Runx2⁺

Runx2^tm1Ldq/Runx2⁺

Runx2^tm1Mjo/Runx2⁺

Tg(Col1a1-Runx2)#Pmt/0

Runx2^tm1.1Yyon/Runx2^tm1.1Yyon
Tg(Col1a1-cre)1Kry/0 (conditional)

Runx2^tm1.1Yyon/Runx2^tm1.1Yyon
Tg(Col2a1-cre)1Star/0 (conditional)

Runx2^tm1Javed/Runx2^tm1Javed
Tg(Col2a1-cre)1Bhr/0 (conditional)

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/30/2024 MGI 6.23