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Phenotypes Associated with This Genotype
Genotype
MGI:3829628
Allelic
Composition
Runx2tm1Jals/Runx2tm1Jals
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Jals mutation (0 available); any Runx2 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• unlike mice homozygous for other Runx2 allele, mice have a normal lifespan

skeleton
• proliferation rates of calvarial osteoblasts are higher than in wild-type cells
• at 6 weeks, mice exhibit irregular tissue between intraparietal bones unlike in wild-type mice
• at P2, mice have wide sutures compared to in wild-type mice
• 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
• 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
• 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
• 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
• delayed in calvarial osteoblasts
• 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
• at 6 weeks, mice exhibit irregular tissue between intraparietal bones unlike in wild-type mice
• at P2, mice have wide sutures compared to in wild-type mice
• 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

cellular
• delayed in calvarial osteoblasts
• 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


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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last database update
01/19/2021
MGI 6.16
The Jackson Laboratory