Symbol
Name
ID

Runx2
runt related transcription factor 2
MGI:99829

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes

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

Disease(s) Associated with RUNX2

cleidocranial dysplasia

metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome

Mouse Phenotypes

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 limb development

short limbs

Availability

Mouse Genotype

Runx2^tm1Gss/Runx2^tm1Gss

Runx2^tm1Hkiy/Runx2^tm1Hkiy

Runx2^tm1Kish/Runx2^tm1Kish

Runx2^tm1Ldq/Runx2^tm1Ldq

Runx2^tm1Mjo/Runx2^tm1Mjo

Runx2^{em1(IMPC)Rbrc}/Runx2⁺

Runx2^tm1Ldq/Runx2⁺

Runx2^tm1Mjo/Runx2⁺

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)
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