Phenotypes Associated with This Genotype

Genotype
MGI:3829628

• Allelic Composition: Runx2^tm1Jals/Runx2^tm1Jals
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

mortality/aging ( J:143532 )

N • unlike mice homozygous for other Runx2 allele, mice have a normal lifespan

skeleton

increased osteoblast proliferation ( J:143532 )

• proliferation rates of calvarial osteoblasts are higher than in wild-type cells

abnormal cranial suture morphology ( J:143532 )

• at 6 weeks, mice exhibit irregular tissue between intraparietal bones unlike in wild-type mice

wide cranial sutures ( J:143532 )

• at P2, mice have wide sutures compared to in wild-type mice

abnormal neurocranium morphology ( J:143532 )

• mice exhibit increased non-osseous tissue between the parietal bones

• mice exhibit a decrease in total area and bone area of the calvaria compared to in wild-type mice

• however, mineralization of the remaining calvaria is normal

small basisphenoid bone ( J:143532 )

abnormal clavicle morphology ( J:143532 )

• mice exhibit increased non-osseous tissue between the parietal bones

• mice exhibit a decrease in total area and bone area of the calvaria compared to in wild-type mice

• however, mineralization of the remaining calvaria is normal

clavicle hypoplasia ( J:143532 )

abnormal trabecular bone morphology ( J:143532 )

• mice exhibit reduced spongy bone in the femur with decreased bone volume to tissue volume, decreased trabecular number and increased trabecular space compared to in wild-type mice

abnormal skeleton development ( J:143532 )

• at day 5, mice exhibit truncations of the clavicle development with the pseudoarthrosis joint forming but either the fusion of the two growth centers (lateral and medial) does not occur or the clavicle fractures unlike in wild-type mice

• little intramembranous bone forms on the lateral side of the clavicle and the cartilage tissue contains a disorganized growth plate with hypertrophic chondrocytes

abnormal osteoblast differentiation ( J:143532 )

• delayed in calvarial osteoblasts

abnormal bone ossification ( J:143532 )

• mice exhibit reduced ossification of the calvarial bones compared to in wild-type mice

• however, the ossification of rib, vertebra and limb is normal

craniofacial

abnormal cranial suture morphology ( J:143532 )

• at 6 weeks, mice exhibit irregular tissue between intraparietal bones unlike in wild-type mice

wide cranial sutures ( J:143532 )

• at P2, mice have wide sutures compared to in wild-type mice

abnormal neurocranium morphology ( J:143532 )

• mice exhibit increased non-osseous tissue between the parietal bones

• mice exhibit a decrease in total area and bone area of the calvaria compared to in wild-type mice

• however, mineralization of the remaining calvaria is normal

small basisphenoid bone ( J:143532 )

cellular

abnormal osteoblast differentiation ( J:143532 )

• delayed in calvarial osteoblasts

increased osteoblast proliferation ( J:143532 )

• proliferation rates of calvarial osteoblasts are higher than in wild-type cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleidocranial dysplasia		DOID:13994	OMIM:119600 OMIM:216330	J:143532