Phenotypes Associated with This Genotype

Genotype
MGI:2678410

• Allelic Composition: Runx2^tm1Kish/Runx2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Calvaria and clavicle abnormalities in Gsk3b^tm1Jrw/Gsk3b⁺, Runx2^tm1Kish/Runx2⁺, and Gsk3b^tm1Jrw/Gsk3b⁺ Runx2^tm1Kish/Runx2⁺ mice

skeleton

skeleton phenotype ( J:40783 )

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

abnormal neurocranium morphology ( J:129364 )

abnormal interparietal bone morphology ( J:40783 )

• heterozygotes show retarded ossification of interparietal bones

abnormal supraoccipital bone morphology ( J:40783 )

• heterozygotes show retarded ossification of supraoccipital bones

abnormal parietal bone morphology ( J:40783 )

• heterozygotes show retarded ossification of parietal bones

nasal bone hypoplasia ( J:40783 )

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

clavicle hypoplasia ( J:40783 , J:129364 )

• 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)

delayed fontanelle closure ( 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

impaired adaptive thermogenesis ( J:162258 )

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

decreased thyroxine level ( J:162258 )

decreased circulating thyroxine level ( J:162258 )

decreased triiodothyronine level ( J:162258 )

increased thyroid-stimulating hormone level ( J:162258 )

endocrine/exocrine glands

enlarged thymus ( J:162258 )

abnormal thyroid gland morphology ( J:162258 )

• height of thyroid epithelial cells is higher than in wild-type mice

abnormal thyroid follicle morphology ( J:162258 )

• follicles are small with shorter diameters compared to in wild-type mice

decreased activity of thyroid gland ( J:162258 )

• overt

growth/size/body

growth/size/body region phenotype ( J:40783 )

N • heterozygotes are fertile and normal in gross appearance and body weight relative to wild-type mice

nasal bone hypoplasia ( J:40783 )

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

immune system

enlarged thymus ( J:162258 )

craniofacial

abnormal neurocranium morphology ( J:129364 )

abnormal interparietal bone morphology ( J:40783 )

• heterozygotes show retarded ossification of interparietal bones

abnormal supraoccipital bone morphology ( J:40783 )

• heterozygotes show retarded ossification of supraoccipital bones

abnormal parietal bone morphology ( J:40783 )

• heterozygotes show retarded ossification of parietal bones

nasal bone hypoplasia ( J:40783 )

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

hematopoietic system

enlarged thymus ( J:162258 )

respiratory system

nasal bone hypoplasia ( J:40783 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleidocranial dysplasia		DOID:13994	OMIM:119600 OMIM:216330	J:40783
congenital hypothyroidism		DOID:0050328	OMIM:PS275200	J:162258