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Phenotypes Associated with This Genotype
Genotype
MGI:2678410
Allelic
Composition
Runx2tm1Kish/Runx2+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Kish mutation (0 available); any Runx2 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Calvaria and clavicle abnormalities in Gsk3btm1Jrw/Gsk3b+, Runx2tm1Kish/Runx2+, and Gsk3btm1Jrw/Gsk3b+ Runx2tm1Kish/Runx2+ mice

skeleton
N
• heterozygous embryos (E15.5-E18.5) and newborns show no significant abnormalities in skeletal development except for alterations in clavicle and cranial bone morphology
• heterozygotes show retarded ossification of interparietal bones
• heterozygotes show retarded ossification of supraoccipital bones
• heterozygotes show retarded ossification of parietal bones
• heterozygotes exhibit hypoplastic nasal bones relative to wild-type mice
• heterozygotes exhibit hypoplastic clavicles relative to wild-type mice (J:40783)
• in adults, the degree of hypoplasia varies from a tiny ossification center at the acromial end to a thin clavicle of normal length; such skeletal changes are reminiscent of human cleidocranial dysplasia (J:40783)
• administration of lithium chloride to embryos through pregnant and lactating dams from E7.5 to 3 weeks of age restores the clavicle abnormality (J:129364)
• delay in closure of the fontanelle
• administration of lithium chloride to embryos through pregnant and lactating dams from E7.5 to 3 weeks of age restores the fontanelle abnormality

homeostasis/metabolism
• cold-exposed mice exhibit lower body temperatures than similarly treated wild-type mice

endocrine/exocrine glands
• height of thyroid epithelial cells is higher than in wild-type mice
• follicles are small with shorter diameters compared to in wild-type mice

growth/size/body
N
• heterozygotes are fertile and normal in gross appearance and body weight relative to wild-type mice
• heterozygotes exhibit hypoplastic nasal bones relative to wild-type mice

immune system

craniofacial
• heterozygotes show retarded ossification of interparietal bones
• heterozygotes show retarded ossification of supraoccipital bones
• heterozygotes show retarded ossification of parietal bones
• heterozygotes exhibit hypoplastic nasal bones relative to wild-type mice

hematopoietic system

respiratory system
• heterozygotes exhibit hypoplastic nasal bones relative to wild-type mice


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