Phenotypes associated with this allele

• Allele Symbol: Runx2^tm1Gss
• Allele Name: targeted mutation 1, Gary S Stein
• Allele ID: MGI:2183833
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Runx2^tm1Gss/Runx2^tm1Gss	involves: 129S7/SvEvBrd * C57BL/6	MGI:3715300
ht2	Runx2^tm1Gss/Runx2^+	involves: 129S7/SvEvBrd	MGI:3829629
ht3	Runx2^tm1Gss/Runx2^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3715301

Genotype
MGI:3715300

hm1

• Allelic Composition: Runx2^tm1Gss/Runx2^tm1Gss
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Embryonic lethality in Runx2^tm1Gss/Runx2^tm1Gss and absence of clavicle in Runx2^tm1Gss/Runx2⁺ mice

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:70461 )

• homozygous embryos die after 17.5 days post-coitum but prior to 18.5 dpc

craniofacial

abnormal craniofacial bone morphology ( J:70461 )

• cranial and facial bones are absent in homozygotes from 17.5 dpc to birth

skeleton

abnormal craniofacial bone morphology ( J:70461 )

• cranial and facial bones are absent in homozygotes from 17.5 dpc to birth

abnormal cartilage development ( J:70461 )

• calcified cartilage is not found in embryos at 17.5 dpc

abnormal bone ossification ( J:70461 )

• mineralization is not detectable at 17.5 dpc, but initiation of osteogenesis is evident in 18.5 dpc embryos and newborns

• there is complete absence of intramembranous bone formation at any stage of development

• osteoblast differentiation is inhibited; echondral bone formation is arrested when diaphysis is composed entirely of hypertrophic chondrocytes

abnormal bone mineralization ( J:70461 )

• at 17.5 dpc, no mineralized bone is observed in embryos, but a few mineralized vertebrae are detectable at 18.5 dpc; mineral containing tissues are not detectable at 18.5 dpc

limbs/digits/tail

abnormal limb development ( J:70461 )

• bone formation is disrupted at stage of hypertrophic chondrocyte maturation; limbs consist almost entirely of cartilage

• limbs display no evidence of bone marrow cavity

cardiovascular system

abnormal vascular development ( J:70461 )

• vascular ingrowth into bones does not progress normally

Genotype
MGI:3829629

ht2

• Allelic Composition: Runx2^tm1Gss/Runx2⁺
• Genetic Background: involves: 129S7/SvEvBrd

skeleton

abnormal neurocranium morphology ( J:143532 )

absent clavicle ( J:143532 )

craniofacial

abnormal neurocranium morphology ( J:143532 )

Genotype
MGI:3715301

ht3

• Allelic Composition: Runx2^tm1Gss/Runx2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Embryonic lethality in Runx2^tm1Gss/Runx2^tm1Gss and absence of clavicle in Runx2^tm1Gss/Runx2⁺ mice

growth/size/body

decreased body weight ( J:70461 )

• postnatal body weight in males is 18-20% lower than wild-type

slow postnatal weight gain ( J:70461 )

• postnatal weight gain in males is lower than in wild-type

skeleton

skeleton phenotype ( J:70461 )

N • skeleton development, with exception of clavicle formation, and bone mineralization are normal in heterozygotes

absent clavicle ( J:70461 )

• clavicles are missing, but otherwise skeletons and craniofacial features are normal; most mice have a small calcified remnant of the clavicle at the acromial end