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Phenotypes Associated with This Genotype
Genotype
MGI:3044747
Allelic
Composition
Runx2tm1Mjo/Runx2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• there is a significantly reduced percentage of stage 4 follicles in E18.5- E19.0 embryos (23% vs 17% in wild-type controls at E18.5)
• there is also a significant reduction in stage 3 follicles at E19.0 (25% vs. 34%)
• the mean overall thickness of the skin of E18.5 embryos is 196 microns compared to 252 microns for wild-type embryos
• there is a 37% reduction of basal epithelial cells that are actively dividing in the skin of E18.5 embyros compared to wild-type embryos
• the mean thickness of the epidermis of E18.5 embryos is 35 microns which is significantly less than the mean of 43 microns for wild-type embryos

cellular
• heterozygotes exhibit neither surface osteoblastic differentiation nor intramembranous bone formation laterally

craniofacial
• newborn heterozygotes display delayed ossification of the cranial bones resulting in widened cranial sutures
• newborn heterozygotes display delayed ossification of the cranial bones resulting in an open anterior and posterior fontanelle
• in newborn heterozygotes, the interparietal bones are hypoplastic relative to those of wild-type mice; numerous Wormian bones are present
• in newborn heterozygotes, the parietal bones are hypoplastic relative to those of wild-type mice; numerous Wormian bones are present
• newborn heterozygotes have a hypoplastic hyoid bone with two distinct ossification centers
• in heterozygotes, the development of tooth primordia is slightly retarded but otherwise normal

limbs/digits/tail
• heterozygotes show loss of the deltoid tuberosity of the humerus

skeleton
• heterozygotes exhibit neither surface osteoblastic differentiation nor intramembranous bone formation laterally
• newborn heterozygotes display delayed ossification of the cranial bones resulting in widened cranial sutures
• newborn heterozygotes display delayed ossification of the cranial bones resulting in an open anterior and posterior fontanelle
• in newborn heterozygotes, the interparietal bones are hypoplastic relative to those of wild-type mice; numerous Wormian bones are present
• in newborn heterozygotes, the parietal bones are hypoplastic relative to those of wild-type mice; numerous Wormian bones are present
• newborn heterozygotes have a hypoplastic hyoid bone with two distinct ossification centers
• in heterozygotes, the development of tooth primordia is slightly retarded but otherwise normal
• heterozygotes show loss of the deltoid tuberosity of the humerus
• newborn heterozygotes exhibit hypoplasia of the clavicle; only a clavicular (lateral) rudiment is observed
• heterozygous clavicles display a slightly hypoactive periclavicular mesenchyme with less advanced cartilaginous differentiation at 16.5 dpc, but with organizing cartilage at 19.5 dpc
• newborn heterozygotes have a wider xiphoid process of the sternum with two well-separated ossification centers
• the pubic and ischial bones are widely separated and hypoplastic in newborns
• the pubic and ischial bones are widely separated and hypoplastic in newborns
• adult heterozygotes have a solid cartilaginous bar within a thick fibrous sheath; the cartilage appears disorganized with no matrix calcification
• in adult heterozygotes, epiphyseal growth-plate structure and differentiation are only slightly perturbed
• at 16.5 dpc, heterozygous embryos show a slight delay in endochondral ossification, with relatively normal vascularization and population of the marrow by hematopoetic cells
• at 16.5 dpc, the skulls of heterozygotes have slightly thinner cartilage plates with minimal intramembranous ossification; however, ossification is readily detectable at 19.5 dpc

growth/size/body
• in heterozygotes, the development of tooth primordia is slightly retarded but otherwise normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cleidocranial dysplasia DOID:13994 OMIM:119600
OMIM:216330
J:40784 , J:53868


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
07/05/2024
MGI 6.24
The Jackson Laboratory