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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Runx2tm1Mjo
targeted mutation 1, Michael J Owen
MGI:2176465
Summary 20 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Runx2tm1Mjo/Runx2tm1Mjo involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3044748
hm2
Runx2tm1Mjo/Runx2tm1Mjo involves: C57BL/6 * NMRI MGI:3055822
hm3
Runx2tm1Mjo/Runx2tm1Mjo Not Specified MGI:4440961
ht4
Runx2tm1Mjo/Runx2+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3044747
ht5
Runx2tm1Mjo/Runx2+ Not Specified MGI:4887970
cn6
Gt(ROSA)26Sortm3(Runx2)Flng/Gt(ROSA)26Sortm3(Runx2)Flng
Runx2tm1Mjo/Runx2tm1Mjo
Tg(Col2a1-cre)3Amc/0
involves: 129X1/SvJ MGI:5311112
cn7
Gt(ROSA)26Sortm3(Runx2)Flng/Gt(ROSA)26Sor+
Runx2tm1Mjo/Runx2tm1Mjo
Tg(Col2a1-cre)3Amc/0
involves: 129X1/SvJ MGI:5311113
cn8
Runx1tm1.1Stkd/Runx1tm1.1Stkd
Runx2tm1Mjo/Runx2tm1Mjo
Tg(Col2a1-cre)1Star/0
involves: C57BL/6 MGI:4440962
cn9
Runx1tm1.1Stkd/Runx1tm1.1Stkd
Runx2tm1Mjo/Runx2tm1Mjo
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6J * SJL/J MGI:4440959
cn10
Runx2tm1Mjo/Runx2+
Runx3tm3Yg/Runx3tm3Yg
Tg(Col1a1-cre)1Kry/0
involves: FVB/N MGI:5689562
cx11
FlnbGt(XD076)Byg/FlnbGt(XD076)Byg
Runx2tm1Mjo/Runx2+
involves: 129P2/OlaHsd * C57BL/6 MGI:3785402
cx12
Runx2tm1Mjo/Runx2+
Runx3tm1Yg/Runx3tm1Yg
involves: 129S1/Sv * 129X1/SvJ * ICR MGI:5689554
cx13
Tle5tm1Grid/Tle5tm1Grid
Runx2tm1Mjo/Runx2+
involves: 129S1/Sv * C57BL/6 MGI:3582296
cx14
Runx2tm1Mjo/Runx2+
Twist1tm1Bhr/Twist1+
involves: 129S7/SvEvBrd * C57BL/6 MGI:3582479
cx15
Runx2tm1Mjo/Runx2+
Twist2tm1(cre)Dor/Twist2+
involves: 129X1/SvJ * C57BL/6 MGI:3582481
cx16
Runx2tm1Mjo/Runx2+
Twist2tm1(cre)Dor/Twist2tm1(cre)Dor
involves: 129X1/SvJ * C57BL/6 MGI:3582480
cx17
Hivep3tm1Glm/Hivep3tm1Glm
Runx2tm1Mjo/Runx2+
involves: C57BL/6 MGI:5550514
cx18
Runx2tm1Mjo/Runx2+
Tg(Eno2tTA)#Nes/0
Tg(tetO-Zfp521)#Rbar/0
involves: C57BL/6 * SJL MGI:4887973
cx19
Runx2tm1Mjo/Runx2+
Zfp521tm2Ngc/Zfp521+
Not Specified MGI:4887971
cx20
Runx2tm1Mjo/Runx2+
Satb2tm1Rug/Satb2+
Not Specified MGI:3696662


Genotype
MGI:3044748
hm1
Allelic
Composition
Runx2tm1Mjo/Runx2tm1Mjo
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 (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes die of respiratory failure shortly after birth

skeleton
• at 19.5 dpc, mutant skulls have thinner cartilaginous plates than wild-type skulls
• in homozygotes, the tooth primordia are severely hypoplastic; however, differentiation into the different layers proceeds normally
• at 19.5 dpc, homozygotes lack a cellular clavicular mesenchyme; as a result, no cartilaginous head is identified
• at 17.5 dpc, homozygotes fail to exhibit detectable osteoblastic differentiation and lack ossification centers or marrow formation
• at this stage, the mesenchymal cell layer is small and inactive, and osteoblasts are absent
• at 19.5 dpc, the cartilage appears underdeveloped but displays some organization into growth plates near the diaphyseal end plates
• no osteoid is detected; however, a patchy calcification of cartilaginous tissue matrix is noted in the femur, tibia, and vertebrae, resulting in a reticulated pattern in the diaphyseal regions
• at 17.5 dpc, homozygotes display an almost complete absence of ossification of the entire skeleton; in contrast, cartilage formation appears unaffected
• at birth, homozygotes exhibit small areas of mineralization; however, these areas do not correspond to any ossification
• at 19.5 dpc, the cellular mesenchymal layer that gives rise to intramembranous ossification is absent in mutant skulls

craniofacial
• at 19.5 dpc, mutant skulls have thinner cartilaginous plates than wild-type skulls
• in homozygotes, the tooth primordia are severely hypoplastic; however, differentiation into the different layers proceeds normally
• from ~E16.5 dpc onwards, homozygotes display a foreshortened nose

respiratory system
• live-born homozygotes exhibit vascular congestion of the lungs
• from ~E16.5 dpc onwards, homozygotes display a foreshortened nose
• in live-born homozygotes, lungs appear underinflated despite normal bronchio-alveolar development; lung morphology is consistent with death due to asphyxia
• most homozygotes delivered by Caesarean section at 18.5 or 19.5 dpc live; however, some pups occasionally gasp for air at irregular intervals, and show no signs of life after 20 minutes

hematopoietic system
• newborn homozygotes display no formation of marrow cavities: vascularization and population of the marrow by hematopoetic cells fails
• at 16.5 dpc, homozygotes display a 10- to 100-fold rise in primitive nucleated erythrocytes relative to wild-type mice
• the increase in primitive nucleated erythrocytes is likely to be a secondary effect of absence of hemotopoietic marrow development

growth/size/body
• in homozygotes, the tooth primordia are severely hypoplastic; however, differentiation into the different layers proceeds normally
• from ~E16.5 dpc onwards, homozygotes display a foreshortened nose
• homozygotes are small relative to wild-type mice
• the weight of homozygous mutant mice is reduced by approximately one-third relative to the weight of wild-type mice

cardiovascular system
• live-born homozygotes exhibit vascular congestion of the lungs




Genotype
MGI:3055822
hm2
Allelic
Composition
Runx2tm1Mjo/Runx2tm1Mjo
Genetic
Background
involves: C57BL/6 * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• in homozygotes, mandibular molar organs are more severely affected than maxillary molar organs
• at E18, the dental lamina of mutant mandibles is highly proliferative, with no clear progression to the cap stage; in contrast, maxillary molar organs advance to the bud stage
• at E18, the dental lamina of mutant mandibles is highly proliferative, with no clear advancement to the cap stage
• mesenchymal dental papilla fails to form
• epithelial cervical loops fail to form
• mutant molar organs lack a morphologically distinguishable enamel knot
• homozygotes display a developmental arrest in tooth morphogenesis in the transition from the bud to the cap stage
• mutant maxillary and mandibular incisor organs are less severly affected than molar organs but show poorly differentiated odontoblasts and ameloblasts
• at E13 (early bud stage), homozygotes display a delay in maxillary molar development relative to wild-type mice
• at E14, wild-type molar organs have reached the cap stage with an enamel knot and cervical loops; in contrast, mutant E14 molars have not progressed beyond the bud stage of E13
• at E16 (early bell-stage), homozygotes exhibit extra buddings in the anterior and palatal aspects of upper maxillary molars relative to wild-type; such accessory outgrowths are also found in lower molars
• at E18, the tooth buds of mutant molars have regressed; the extra buddings are indistinguishable from the actual tooth organ and the mandibular lamina is irregular
• most newborn mutants show a failure of fusion between the shelves of the secondary palate
• palatal clefting is not associated with defects in primary palate fusion or cleft lip

skeleton
• in homozygotes, mandibular molar organs are more severely affected than maxillary molar organs
• at E18, the dental lamina of mutant mandibles is highly proliferative, with no clear progression to the cap stage; in contrast, maxillary molar organs advance to the bud stage
• at E18, the dental lamina of mutant mandibles is highly proliferative, with no clear advancement to the cap stage
• mesenchymal dental papilla fails to form
• epithelial cervical loops fail to form
• mutant molar organs lack a morphologically distinguishable enamel knot
• homozygotes display a developmental arrest in tooth morphogenesis in the transition from the bud to the cap stage
• mutant maxillary and mandibular incisor organs are less severly affected than molar organs but show poorly differentiated odontoblasts and ameloblasts
• at E13 (early bud stage), homozygotes display a delay in maxillary molar development relative to wild-type mice
• at E14, wild-type molar organs have reached the cap stage with an enamel knot and cervical loops; in contrast, mutant E14 molars have not progressed beyond the bud stage of E13
• at E16 (early bell-stage), homozygotes exhibit extra buddings in the anterior and palatal aspects of upper maxillary molars relative to wild-type; such accessory outgrowths are also found in lower molars
• at E18, the tooth buds of mutant molars have regressed; the extra buddings are indistinguishable from the actual tooth organ and the mandibular lamina is irregular

vision/eye
• several mutant pups fail to exhibit eyelid closure at the neonatal stage

digestive/alimentary system
• most newborn mutants show a failure of fusion between the shelves of the secondary palate
• palatal clefting is not associated with defects in primary palate fusion or cleft lip

growth/size/body
• in homozygotes, mandibular molar organs are more severely affected than maxillary molar organs
• at E18, the dental lamina of mutant mandibles is highly proliferative, with no clear progression to the cap stage; in contrast, maxillary molar organs advance to the bud stage
• at E18, the dental lamina of mutant mandibles is highly proliferative, with no clear advancement to the cap stage
• mesenchymal dental papilla fails to form
• epithelial cervical loops fail to form
• mutant molar organs lack a morphologically distinguishable enamel knot
• homozygotes display a developmental arrest in tooth morphogenesis in the transition from the bud to the cap stage
• mutant maxillary and mandibular incisor organs are less severly affected than molar organs but show poorly differentiated odontoblasts and ameloblasts
• at E13 (early bud stage), homozygotes display a delay in maxillary molar development relative to wild-type mice
• at E14, wild-type molar organs have reached the cap stage with an enamel knot and cervical loops; in contrast, mutant E14 molars have not progressed beyond the bud stage of E13
• at E16 (early bell-stage), homozygotes exhibit extra buddings in the anterior and palatal aspects of upper maxillary molars relative to wild-type; such accessory outgrowths are also found in lower molars
• at E18, the tooth buds of mutant molars have regressed; the extra buddings are indistinguishable from the actual tooth organ and the mandibular lamina is irregular
• most newborn mutants show a failure of fusion between the shelves of the secondary palate
• palatal clefting is not associated with defects in primary palate fusion or cleft lip




Genotype
MGI:4440961
hm3
Allelic
Composition
Runx2tm1Mjo/Runx2tm1Mjo
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• at birth, mutant incisors display poorly differentiated odontoblasts
• at E16.5, homozygous mutant incisors are significantly hypoplastic relative to wild-type incisors
• at E16.5, homozygous mutant molars are significantly hypoplastic relative to wild-type molars
• at E16.5, homozygous mutant incisors appear developmentally retarded relative to wild-type incisors; abnormal tissue separation is noted at the epithelial-mesenchymal interface
• at birth, mutant molar organs are still at the cap/early bell stage as opposed to the late bell stage in wild-type molars
• at birth, mutant incisors display a highly disorganized dentin matrix relative to wild-type
• at E16.5 and birth, mutant molars and incisors show poor differentiation of the enamel, which has only advanced to the cap stage
• at birth, the abnormal enamel organ of first molars displays poorly discernible cuspal outlines; the peripheral layer of cells in the dental papilla show no polarization
• at E17.5, mutant humeri, but not mutant radii, display absence of chondrocyte hypertrophy and ossification
• at E17.5, mutant radii exhibit delayed and severely reduced chondrocyte hypertrophy relative to wild-type
• at E17.5, mutant ulnae exhibit delayed and severely reduced chondrocyte hypertrophy relative to wild-type
• not mineralized in newborn mice
• at E17.5, homozygotes display lack of chondrocyte differentiation and hypertrophy, with the proximal limb segments being most severely affected
• at E17.5, chondrocyte morphology of mutant humeri and phalanges resembles that of wild-type mice at E13 dpc (pre-hypertrophic)
• in radius/ulna some hypertrophic cells are detected by E14.5 to E15.5 and calcified cartilage is observed at E17.5
• at E14.5, sternal bar development is delayed compared to in wild-type mice
• homozygotes display altered growth plate architecture, despite normal development of the initial cartilaginous anlage in all skeletal segments
• homozygotes display loss or severe retardation of cartilage calcification relative to wild-type mice; no vascular invasion is noted in areas of calcified cartilage
• at E17.5, homozygotes show no ossification with the exception of radius/ulna and tibia/fibula; here, calcification is not detectable until E16.5, whereas wild-type mice display calcification as early as E14.5

cardiovascular system
• at E17.5, homozygotes display no vessel invasion into cartilage, in spite of abundant vascularization in the perichondrium and the surrounding tissue
• absence of cartilage angiogenesis is associated with lack of VEGF upregulation in hypertrophic chondrocytes, and no upregulation of the expression of VEGF receptors in perichondrial endothelial cells

craniofacial
• at birth, mutant incisors display poorly differentiated odontoblasts
• at E16.5, homozygous mutant incisors are significantly hypoplastic relative to wild-type incisors
• at E16.5, homozygous mutant molars are significantly hypoplastic relative to wild-type molars
• at E16.5, homozygous mutant incisors appear developmentally retarded relative to wild-type incisors; abnormal tissue separation is noted at the epithelial-mesenchymal interface
• at birth, mutant molar organs are still at the cap/early bell stage as opposed to the late bell stage in wild-type molars
• at birth, mutant incisors display a highly disorganized dentin matrix relative to wild-type
• at E16.5 and birth, mutant molars and incisors show poor differentiation of the enamel, which has only advanced to the cap stage
• at birth, the abnormal enamel organ of first molars displays poorly discernible cuspal outlines; the peripheral layer of cells in the dental papilla show no polarization

limbs/digits/tail
• at E17.5, mutant humeri, but not mutant radii, display absence of chondrocyte hypertrophy and ossification
• at E17.5, mutant radii exhibit delayed and severely reduced chondrocyte hypertrophy relative to wild-type
• at E17.5, mutant ulnae exhibit delayed and severely reduced chondrocyte hypertrophy relative to wild-type

growth/size/body
• at birth, mutant incisors display poorly differentiated odontoblasts
• at E16.5, homozygous mutant incisors are significantly hypoplastic relative to wild-type incisors
• at E16.5, homozygous mutant molars are significantly hypoplastic relative to wild-type molars
• at E16.5, homozygous mutant incisors appear developmentally retarded relative to wild-type incisors; abnormal tissue separation is noted at the epithelial-mesenchymal interface
• at birth, mutant molar organs are still at the cap/early bell stage as opposed to the late bell stage in wild-type molars
• at birth, mutant incisors display a highly disorganized dentin matrix relative to wild-type
• at E16.5 and birth, mutant molars and incisors show poor differentiation of the enamel, which has only advanced to the cap stage
• at birth, the abnormal enamel organ of first molars displays poorly discernible cuspal outlines; the peripheral layer of cells in the dental papilla show no polarization




Genotype
MGI:3044747
ht4
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 (18 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




Genotype
MGI:4887970
ht5
Allelic
Composition
Runx2tm1Mjo/Runx2+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Trabecular bone and clavicle analysis in various mice with Runx2tm1Mjo and/or Hivep3tm1Glm alleles

skeleton
• at P25, mice exhibit a defined nonmineralization area between the anterior and posterior fontanelles compared to in wild-type mice
• the midportion of the hyoid bone fails to mineralize unlike in wild-type mice

craniofacial
• at P25, mice exhibit a defined nonmineralization area between the anterior and posterior fontanelles compared to in wild-type mice
• the midportion of the hyoid bone fails to mineralize unlike in wild-type mice




Genotype
MGI:5311112
cn6
Allelic
Composition
Gt(ROSA)26Sortm3(Runx2)Flng/Gt(ROSA)26Sortm3(Runx2)Flng
Runx2tm1Mjo/Runx2tm1Mjo
Tg(Col2a1-cre)3Amc/0
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm3(Runx2)Flng mutation (1 available); any Gt(ROSA)26Sor mutation (765 available)
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Tg(Col2a1-cre)3Amc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• unlike Runx2tm1Mjo homozygotes, mice exhibit normal cartilage, bone collar, and marrow and restored osteoblast differentiation and cartilage hypertrophy
• at E18.5, bone formation defects observed in Runx2tm1Mjo homozygotes are partially recovered in the endochondrial skeleton but not the skull




Genotype
MGI:5311113
cn7
Allelic
Composition
Gt(ROSA)26Sortm3(Runx2)Flng/Gt(ROSA)26Sor+
Runx2tm1Mjo/Runx2tm1Mjo
Tg(Col2a1-cre)3Amc/0
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm3(Runx2)Flng mutation (1 available); any Gt(ROSA)26Sor mutation (765 available)
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Tg(Col2a1-cre)3Amc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• unlike Runx2tm1Mjo homozygotes, mice exhibit normal bone collar
• like Runx2tm1Mjo homozygotes, mice lack a marrow cavity
• at E18.5, bone formation defects observed in Runx2tm1Mjo homozygotes are partially recovered in the endochondrial skeleton but not the skull




Genotype
MGI:4440962
cn8
Allelic
Composition
Runx1tm1.1Stkd/Runx1tm1.1Stkd
Runx2tm1Mjo/Runx2tm1Mjo
Tg(Col2a1-cre)1Star/0
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx1tm1.1Stkd mutation (0 available); any Runx1 mutation (25 available)
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Tg(Col2a1-cre)1Star mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• newborn mice are indistinguishable from Runx2tm1Mjo homozygotes




Genotype
MGI:4440959
cn9
Allelic
Composition
Runx1tm1.1Stkd/Runx1tm1.1Stkd
Runx2tm1Mjo/Runx2tm1Mjo
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx1tm1.1Stkd mutation (0 available); any Runx1 mutation (25 available)
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

skeleton
• in newborn mice with no sign of sternal bar development
• sternal bar development is absent unlike in wild-type mice
• at E13.5, reduced Alcian blue staining of cartilaginous matrices and marker expression compared to in wild-type mice indicate impaired chondrocyte differentiation
• mice fail to exhibit mineralization of most skeletal elements, including the sternum, unlike in wild-type mice




Genotype
MGI:5689562
cn10
Allelic
Composition
Runx2tm1Mjo/Runx2+
Runx3tm3Yg/Runx3tm3Yg
Tg(Col1a1-cre)1Kry/0
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Runx3tm3Yg mutation (0 available); any Runx3 mutation (13 available)
Tg(Col1a1-cre)1Kry mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• dwarfism
• short stature




Genotype
MGI:3785402
cx11
Allelic
Composition
FlnbGt(XD076)Byg/FlnbGt(XD076)Byg
Runx2tm1Mjo/Runx2+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
FlnbGt(XD076)Byg mutation (0 available); any Flnb mutation (163 available)
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• mice exhibit normal cervical vertebrae
• at P0, cranial sutures remain open
• at P0, the occipital bone is less developed than in Runx2tm1Mjo heterozygotes
• ossification between sternebrae observed in FlnbGt(XD076)Byg homozygotes is partially rescued

craniofacial
• at P0, cranial sutures remain open
• at P0, the occipital bone is less developed than in Runx2tm1Mjo heterozygotes




Genotype
MGI:5689554
cx12
Allelic
Composition
Runx2tm1Mjo/Runx2+
Runx3tm1Yg/Runx3tm1Yg
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Runx3tm1Yg mutation (0 available); any Runx3 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only a few mice survive to 1 week of age

skeleton
• digital bones of 0.5 day old mice remain grossly cartilaginous indicating delayed skeletal ossification




Genotype
MGI:3582296
cx13
Allelic
Composition
Tle5tm1Grid/Tle5tm1Grid
Runx2tm1Mjo/Runx2+
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Tle5tm1Grid mutation (0 available); any Tle5 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• these mutants possess hypoplastic clavicles with no medial cartilaginous anlage, similar to the phenotype observed in Runx2 heterozygotes
• at 1 week after birth, these mutants display a phenotype of osteopenia, which worsens at 2-4 weeks after birth
• these mutants show reduced skeletal development and growth relative to control littermates
• these mutants exhibit a more severe defect in fontanelle closure relative to heterozygous Runx2 mice
• these mutants show expansion of the resting zone and thinner zones of proliferation and hypertrophy in the growth plate relative to control littermates
• the growth plates of the tibia and humerus show reduced thickness due to a reduction in the thickness of the proliferative as well as the hypertrophic zones
• these mutants show an exacerbated reduction in the overall height of growth plates of the tibia and humerus, and in the amount of trabecular bone subjacent to the growth plates relative to Aes homozygous null littermates
• this severe growth plate defect is largely attributed to reduced Ihh signaling

growth/size/body
• 80% of these mutants display body weights in the range of 28-75% of control wild-type or Aes heterozygous null littermates
• the weights of ~20% of these mice are less than 50% the weight of wild-type littermates; the weights of ~30% are between 50% and 60% of wild-type weights
• no sex differences are noted during the first 5 weeks of postnatal growth; however, subsequently the weight differences between female mutant and wild-type mice are not as large as they are in males
• at 1 week after birth, these mutants display a phenotype of dwarfism, which progressively worsens at 2-4 weeks after birth
• although mutants recover to some extent after 5 weeks of age, they remain consistently smaller than their littermates
• these mutants exhibit significant individual variation in the severity of the growth defect
• males are severely affected and remain small up to 6 months of age; in contrast, the weight and size of female mutants approach wild-type values after 2-3 months of age

craniofacial
• these mutants exhibit a more severe defect in fontanelle closure relative to heterozygous Runx2 mice

reproductive system
• the cause of female infertility requires further investigation
• the cause of male infertility requires further investigation




Genotype
MGI:3582479
cx14
Allelic
Composition
Runx2tm1Mjo/Runx2+
Twist1tm1Bhr/Twist1+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Twist1tm1Bhr mutation (4 available); any Twist1 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
N
• in contrast to the craniosynostotic Twist1tm1Bhr heterozygotes, 10-day-old mice doubly heterozygous for Runx2tm1Mjo and Twist1tm1Bhr exhibit a normally shaped skull, intraparietal bones of nearly normal size, and no premature fusion of coronal sutures

skeleton
• notably, 10-day-old mice doubly heterozygotes for Runx2tm1Mjo and Twist1tm1Bhr continue to display the clavicle hypoplasia of Runx2tm1Mjo heterozygotes




Genotype
MGI:3582481
cx15
Allelic
Composition
Runx2tm1Mjo/Runx2+
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• similar to Runx2tm1Mjo heterozygotes, newborn mice doubly heterozygous for Runx2tm1Mjo and Twist2tm1Dor display hypoplastic clavicles




Genotype
MGI:3582480
cx16
Allelic
Composition
Runx2tm1Mjo/Runx2+
Twist2tm1(cre)Dor/Twist2tm1(cre)Dor
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• newborns heterozygous for Runx2tm1Mjo and homozygotes for Twist2tm1Dor exhibit an almost complete rescue of the clavicle hypoplasia characteristic of Runx2tm1Mjo heterozygotes
• similar to Runx2tm1Mjo heterozygotes, newborns heterozygous for Runx2tm1Mjo and homozygotes for Twist2tm1Dor exhibit a reduction in the size of the intraparietal bone
• similar to Runx2tm1Mjo heterozygotes, newborns heterozygous for Runx2tm1Mjo and homozygotes for Twist2tm1Dor display a delay in closure of the fontanelles

craniofacial
• similar to Runx2tm1Mjo heterozygotes, newborns heterozygous for Runx2tm1Mjo and homozygotes for Twist2tm1Dor exhibit a reduction in the size of the intraparietal bone




Genotype
MGI:5550514
cx17
Allelic
Composition
Hivep3tm1Glm/Hivep3tm1Glm
Runx2tm1Mjo/Runx2+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hivep3tm1Glm mutation (0 available); any Hivep3 mutation (63 available)
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Trabecular bone and clavicle analysis in various mice with Runx2tm1Mjo and/or Hivep3tm1Glm alleles

skeleton




Genotype
MGI:4887973
cx18
Allelic
Composition
Runx2tm1Mjo/Runx2+
Tg(Eno2tTA)#Nes/0
Tg(tetO-Zfp521)#Rbar/0
Genetic
Background
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Tg(Eno2tTA)#Nes mutation (0 available)
Tg(tetO-Zfp521)#Rbar mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• at P25, mice exhibit a defined nonmineralization area between the anterior and posterior fontanelles compared to in wild-type mice that is larger than in Runx2tm1Mjo heterozygotes
• the midportion of the hyoid bone fails to mineralize unlike in wild-type mice
• to a greater extent than in Runx2tm1Mjo heterozygotes

craniofacial
• at P25, mice exhibit a defined nonmineralization area between the anterior and posterior fontanelles compared to in wild-type mice that is larger than in Runx2tm1Mjo heterozygotes
• the midportion of the hyoid bone fails to mineralize unlike in wild-type mice




Genotype
MGI:4887971
cx19
Allelic
Composition
Runx2tm1Mjo/Runx2+
Zfp521tm2Ngc/Zfp521+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Zfp521tm2Ngc mutation (0 available); any Zfp521 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• the mineralized midpoint of the hyoid bone is decreased in length compared to in wild-type mice
• however, mineralization occurs unlike in Runx2tm1Mjo heterozygotes

skeleton
• the mineralized midpoint of the hyoid bone is decreased in length compared to in wild-type mice
• however, mineralization occurs unlike in Runx2tm1Mjo heterozygotes
• clavicle is smaller than in wild-type mice but not as severely reduced as in Runx2tm1Mjo heterozygotes




Genotype
MGI:3696662
cx20
Allelic
Composition
Runx2tm1Mjo/Runx2+
Satb2tm1Rug/Satb2+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx2tm1Mjo mutation (0 available); any Runx2 mutation (18 available)
Satb2tm1Rug mutation (0 available); any Satb2 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• bone volume/total volume is reduced from 15.5% in wild-type to 3.53% in mutants
• trabecular numbers/mm are reduced from 4.54 in wild-type to 0.79 in mutants
• display a marked reduction of bone formation at E15.5





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last database update
08/09/2022
MGI 6.21
The Jackson Laboratory