Phenotypes associated with this allele

• Allele Symbol: Runx2⁺
• Allele Name: wild type
• Allele ID: MGI:2438560
• Summary: 21 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Runx2^em1(IMPC)Rbrc/Runx2^+	C57BL/6NJcl-Runx2^em1(IMPC)Rbrc/Rbrc	MGI:7415054
ht2	Runx2^tm1Hkiy/Runx2^+	involves: 129P2/OlaHsd * C57BL/6	MGI:5770598
ht3	Runx2^tm1Kish/Runx2^+	involves: 129P2/OlaHsd * C57BL/6	MGI:2678410
ht4	Runx2^tm1Mjo/Runx2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3044747
ht5	Runx2^tm1Gss/Runx2^+	involves: 129S7/SvEvBrd	MGI:3829629
ht6	Runx2^tm1Jals/Runx2^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3829630
ht7	Runx2^tm1Gss/Runx2^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3715301
ht8	Runx2^tm1Ldq/Runx2^+	involves: C57BL/6J	MGI:3043793
ht9	Runx2^tm1Mjo/Runx2^+	Not Specified	MGI:4887970
cn10	Runx2^tm1Mjo/Runx2^+ Runx3^tm3Yg/Runx3^tm3Yg Tg(Col1a1-cre)1Kry/0	involves: FVB/N	MGI:5689562
cx11	Gsk3b^tm1Jrw/Gsk3b^+ Runx2^tm1Kish/Runx2^+	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:3778023
cx12	Flnb^Gt(XD076)Byg/Flnb^Gt(XD076)Byg Runx2^tm1Mjo/Runx2^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3785402
cx13	Runx2^tm1Mjo/Runx2^+ Runx3^tm1Yg/Runx3^tm1Yg	involves: 129S1/Sv * 129X1/SvJ * ICR	MGI:5689554
cx14	Tle5^tm1Grid/Tle5^tm1Grid Runx2^tm1Mjo/Runx2^+	involves: 129S1/Sv * C57BL/6	MGI:3582296
cx15	Runx2^tm1Mjo/Runx2^+ Twist1^tm1Bhr/Twist1^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3582479
cx16	Runx2^tm1Mjo/Runx2^+ Twist2^tm1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6	MGI:3582481
cx17	Runx2^tm1Mjo/Runx2^+ Twist2^tm1(cre)Dor/Twist2^tm1(cre)Dor	involves: 129X1/SvJ * C57BL/6	MGI:3582480
cx18	Hivep3^tm1Glm/Hivep3^tm1Glm Runx2^tm1Mjo/Runx2^+	involves: C57BL/6	MGI:5550514
cx19	Runx2^tm1Mjo/Runx2^+ Tg(Eno2tTA)#Nes/0 Tg(tetO-Zfp521)#Rbar/0	involves: C57BL/6 * SJL	MGI:4887973
cx20	Runx2^tm1Mjo/Runx2^+ Satb2^tm1Rug/Satb2^+	Not Specified	MGI:3696662
cx21	Runx2^tm1Mjo/Runx2^+ Zfp521^tm2Ngc/Zfp521^+	Not Specified	MGI:4887971

Genotype
MGI:7415054

ht1

• Allelic Composition: Runx2^{em1(IMPC)Rbrc}/Runx2⁺
• Genetic Background: C57BL/6NJcl-Runx2^{em1(IMPC)Rbrc}/Rbrc

Data Sources

IMPC Data for Runx2

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

craniofacial

abnormal cranium morphology ( J:211773 )

IMPC - RBRC

abnormal zygomatic bone morphology ( J:211773 )

IMPC - RBRC

limbs/digits/tail

abnormal humerus morphology ( J:211773 )

♂

IMPC - RBRC

skeleton

abnormal cranium morphology ( J:211773 )

IMPC - RBRC

abnormal zygomatic bone morphology ( J:211773 )

IMPC - RBRC

abnormal humerus morphology ( J:211773 )

♂

IMPC - RBRC

abnormal clavicle morphology ( J:211773 )

IMPC - RBRC

abnormal pelvic girdle bone morphology ( J:211773 )

IMPC - RBRC

abnormal vertebrae morphology ( J:211773 )

IMPC - RBRC

abnormal vertebral arch morphology ( J:211773 )

IMPC - RBRC

abnormal bone structure ( J:211773 )

♀

IMPC - RBRC

decreased bone mineral content ( J:211773 )

IMPC - RBRC

Genotype
MGI:5770598

ht2

• Allelic Composition: Runx2^tm1Hkiy/Runx2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Runx2^tm1Hkiy/Runx2⁺ and Runx2^tm1Hkiy/Runx2^tm1Hkiy mice show delayed bone ossification

skeleton

impaired osteoblast differentiation ( J:223410 )

• in vitro, E18.5 calvarial cells cultured osteogenic medium show an intermediate defect in osteoblast development, as determined by bone nodule formation and alkaline phosphatase activity

small clavicle ( J:223410 )

• at E18.5

delayed endochondral bone ossification ( J:223410 )

• reduced ossification of hyoid bone at E18.5

• however, the volume and other quantified bone mineral parameters of femurs are not statistically altered

delayed intramembranous bone ossification ( J:223410 )

• at E18.5, delay in the formation of calvaria is intermediate between that of wild-type and homozygous mutant mice

cellular

impaired osteoblast differentiation ( J:223410 )

• in vitro, E18.5 calvarial cells cultured osteogenic medium show an intermediate defect in osteoblast development, as determined by bone nodule formation and alkaline phosphatase activity

Genotype
MGI:2678410

ht3

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

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

Genotype
MGI:3044747

ht4

• Allelic Composition: Runx2^tm1Mjo/Runx2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

integument

underdeveloped hair follicles ( J:132568 )

• 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%)

abnormal skin morphology ( J:132568 )

• the mean overall thickness of the skin of E18.5 embryos is 196 microns compared to 252 microns for wild-type embryos

abnormal epidermis suprabasal layer morphology ( J:132568 )

• 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

thin epidermis ( J:132568 )

• 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

abnormal osteoblast differentiation ( J:40784 )

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

craniofacial

abnormal fontanelle morphology ( J:40784 )

• newborn heterozygotes display delayed ossification of the cranial bones resulting in an open anterior and posterior fontanelle

wide cranial sutures ( J:40784 )

• newborn heterozygotes display delayed ossification of the cranial bones resulting in widened cranial sutures

interparietal bone hypoplasia ( J:40784 )

• in newborn heterozygotes, the interparietal bones are hypoplastic relative to those of wild-type mice; numerous Wormian bones are present

parietal bone hypoplasia ( J:40784 )

• in newborn heterozygotes, the parietal bones are hypoplastic relative to those of wild-type mice; numerous Wormian bones are present

hyoid bone hypoplasia ( J:40784 )

• newborn heterozygotes have a hypoplastic hyoid bone with two distinct ossification centers

abnormal tooth development ( J:40784 )

• in heterozygotes, the development of tooth primordia is slightly retarded but otherwise normal

limbs/digits/tail

abnormal humerus morphology ( J:40784 )

absent deltoid tuberosity ( J:40784 )

• heterozygotes show loss of the deltoid tuberosity of the humerus

skeleton

abnormal osteoblast differentiation ( J:40784 )

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

abnormal fontanelle morphology ( J:40784 )

• newborn heterozygotes display delayed ossification of the cranial bones resulting in an open anterior and posterior fontanelle

wide cranial sutures ( J:40784 )

• newborn heterozygotes display delayed ossification of the cranial bones resulting in widened cranial sutures

interparietal bone hypoplasia ( J:40784 )

• in newborn heterozygotes, the interparietal bones are hypoplastic relative to those of wild-type mice; numerous Wormian bones are present

parietal bone hypoplasia ( J:40784 )

• in newborn heterozygotes, the parietal bones are hypoplastic relative to those of wild-type mice; numerous Wormian bones are present

hyoid bone hypoplasia ( J:40784 )

• newborn heterozygotes have a hypoplastic hyoid bone with two distinct ossification centers

abnormal tooth development ( J:40784 )

• in heterozygotes, the development of tooth primordia is slightly retarded but otherwise normal

abnormal humerus morphology ( J:40784 )

absent deltoid tuberosity ( J:40784 )

• heterozygotes show loss of the deltoid tuberosity of the humerus

clavicle hypoplasia ( J:40784 )

• 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

abnormal xiphoid process morphology ( J:40784 )

• newborn heterozygotes have a wider xiphoid process of the sternum with two well-separated ossification centers

ischium hypoplasia ( J:40784 )

• the pubic and ischial bones are widely separated and hypoplastic in newborns

pubis hypoplasia ( J:40784 )

• the pubic and ischial bones are widely separated and hypoplastic in newborns

abnormal cartilage morphology ( J:40784 )

• adult heterozygotes have a solid cartilaginous bar within a thick fibrous sheath; the cartilage appears disorganized with no matrix calcification

abnormal long bone epiphyseal plate morphology ( J:40784 )

• in adult heterozygotes, epiphyseal growth-plate structure and differentiation are only slightly perturbed

delayed endochondral bone ossification ( J:40784 )

• 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

delayed intramembranous bone ossification ( J:40784 )

• 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

abnormal tooth development ( J:40784 )

• 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:3829629

ht5

• Allelic Composition: Runx2^tm1Gss/Runx2⁺
• Genetic Background: involves: 129S7/SvEvBrd

skeleton

abnormal neurocranium morphology ( J:143532 )

absent clavicle ( J:143532 )

craniofacial

abnormal neurocranium morphology ( J:143532 )

Genotype
MGI:3829630

ht6

• Allelic Composition: Runx2^tm1Jals/Runx2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

skeleton

skeleton phenotype ( J:143532 )

N • despite decreased transcript expression, mice exhibit a normal skeletal phenotype

Genotype
MGI:3715301

ht7

• Allelic Composition: Runx2^tm1Gss/Runx2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Embryonic lethality in Runx2^tm1Gss/Runx2^tm1Gss and absence of clavicle in Runx2^tm1Gss/Runx2⁺ mice

growth/size/body

decreased body weight ( J:70461 )

• postnatal body weight in males is 18-20% lower than wild-type

slow postnatal weight gain ( J:70461 )

• postnatal weight gain in males is lower than in wild-type

skeleton

skeleton phenotype ( J:70461 )

N • skeleton development, with exception of clavicle formation, and bone mineralization are normal in heterozygotes

absent clavicle ( J:70461 )

• clavicles are missing, but otherwise skeletons and craniofacial features are normal; most mice have a small calcified remnant of the clavicle at the acromial end

Genotype
MGI:3043793

ht8

• Allelic Composition: Runx2^tm1Ldq/Runx2⁺
• Genetic Background: involves: C57BL/6J

Decrease in trabecular and cortical thickness in Runx2^tm1Ldq/Runx2⁺ and Runx2^tm1Ldq/Runx2^tm1Ldq tibia

growth/size/body

decreased birth body size ( J:89822 )

• newborn heterozygotes have significantly lower body weights and lengths compared to wild-type littermates but are larger than homozygous mutants

decreased birth weight ( J:89822 )

limbs/digits/tail

abnormal tibia morphology ( J:89822 )

• trabecular bone volume/tissue volume and trabecular thickness are significantly reduced in heterozygous mice compared to wild-type mice

• no other gross skeletal abnormalities were detected in heterozygous mice

skeleton

abnormal tibia morphology ( J:89822 )

• trabecular bone volume/tissue volume and trabecular thickness are significantly reduced in heterozygous mice compared to wild-type mice

• no other gross skeletal abnormalities were detected in heterozygous mice

abnormal trabecular bone morphology ( J:89822 )

• trabecular bone volume/tissue volume and trabecular thickness are significantly reduced in heterozygous mice compared to wild-type mice

Genotype
MGI:4887970

ht9

• Allelic Composition: Runx2^tm1Mjo/Runx2⁺
• Genetic Background: Not Specified

Trabecular bone and clavicle analysis in various mice with Runx2^tm1Mjo and/or Hivep3^tm1Glm alleles

skeleton

abnormal fontanelle morphology ( J:167992 )

• at P25, mice exhibit a defined nonmineralization area between the anterior and posterior fontanelles compared to in wild-type mice

abnormal hyoid bone morphology ( J:167992 )

• the midportion of the hyoid bone fails to mineralize unlike in wild-type mice

clavicle hypoplasia ( J:167992 , J:201597 )

craniofacial

abnormal fontanelle morphology ( J:167992 )

• at P25, mice exhibit a defined nonmineralization area between the anterior and posterior fontanelles compared to in wild-type mice

abnormal hyoid bone morphology ( J:167992 )

• the midportion of the hyoid bone fails to mineralize unlike in wild-type mice

Genotype
MGI:5689562

cn10

• Allelic Composition: Runx2^tm1Mjo/Runx2⁺; Runx3^tm3Yg/Runx3^tm3Yg; Tg(Col1a1-cre)1Kry/0
• Genetic Background: involves: FVB/N

growth/size/body

decreased body size ( J:224290 )

• dwarfism

decreased body height ( J:224290 )

• short stature

Genotype
MGI:3778023

cx11

• Allelic Composition: Gsk3b^tm1Jrw/Gsk3b⁺; Runx2^tm1Kish/Runx2⁺
• Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6

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

skeleton

abnormal fontanelle morphology ( J:129364 )

• double heterozygotes exhibit a significant rescue of the fontanelle abnormalities that are seen in single Runx2 heterozygotes, although fontanelle closure is still slower than in wild-type

abnormal clavicle morphology ( J:129364 )

• double heterozygotes exhibit a significant rescue of clavicle abnormalities that are seen in single Runx2 heterozygotes, although the clavicles are still smaller and thinner than in wild-type

craniofacial

abnormal fontanelle morphology ( J:129364 )

• double heterozygotes exhibit a significant rescue of the fontanelle abnormalities that are seen in single Runx2 heterozygotes, although fontanelle closure is still slower than in wild-type

Genotype
MGI:3785402

cx12

• Allelic Composition: Flnb^Gt(XD076)Byg/Flnb^Gt(XD076)Byg; Runx2^tm1Mjo/Runx2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

skeleton

skeleton phenotype ( J:134094 )

N • mice exhibit normal cervical vertebrae

wide cranial sutures ( J:134094 )

• at P0, cranial sutures remain open

small occipital bone ( J:134094 )

• at P0, the occipital bone is less developed than in Runx2^tm1Mjo heterozygotes

abnormal sternebra morphology ( J:134094 )

• ossification between sternebrae observed in Flnb^Gt(XD076)Byg homozygotes is partially rescued

craniofacial

wide cranial sutures ( J:134094 )

• at P0, cranial sutures remain open

small occipital bone ( J:134094 )

• at P0, the occipital bone is less developed than in Runx2^tm1Mjo heterozygotes

Genotype
MGI:5689554

cx13

• Allelic Composition: Runx2^tm1Mjo/Runx2⁺; Runx3^tm1Yg/Runx3^tm1Yg
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

mortality/aging

postnatal lethality, incomplete penetrance ( J:224290 )

• only a few mice survive to 1 week of age

skeleton

delayed bone ossification ( J:224290 )

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

Genotype
MGI:3582296

cx14

• Allelic Composition: Tle5^tm1Grid/Tle5^tm1Grid; Runx2^tm1Mjo/Runx2⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6

skeleton

clavicle hypoplasia ( J:92187 )

• these mutants possess hypoplastic clavicles with no medial cartilaginous anlage, similar to the phenotype observed in Runx2 heterozygotes

decreased bone mineral density ( J:92187 )

• at 1 week after birth, these mutants display a phenotype of osteopenia, which worsens at 2-4 weeks after birth

abnormal skeleton development ( J:92187 )

• these mutants show reduced skeletal development and growth relative to control littermates

abnormal fontanelle morphology ( J:92187 )

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

abnormal long bone hypertrophic chondrocyte zone ( J:92187 )

• these mutants show expansion of the resting zone and thinner zones of proliferation and hypertrophy in the growth plate relative to control littermates

decreased width of hypertrophic chondrocyte zone ( J:92187 )

• 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

decreased long bone epiphyseal plate size ( J:92187 )

• 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

decreased body weight ( J:92187 )

• 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

disproportionate dwarf ( J:92187 )

• 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

postnatal growth retardation ( J:92187 )

• 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

abnormal fontanelle morphology ( J:92187 )

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

reproductive system

female infertility ( J:92187 )

♀ • the cause of female infertility requires further investigation

male infertility ( J:92187 )

♂ • the cause of male infertility requires further investigation

Genotype
MGI:3582479

cx15

• Allelic Composition: Runx2^tm1Mjo/Runx2⁺; Twist1^tm1Bhr/Twist1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

craniofacial

craniofacial phenotype ( J:90056 )

N • in contrast to the craniosynostotic Twist1^tm1Bhr heterozygotes, 10-day-old mice doubly heterozygous for Runx2^tm1Mjo and Twist1^tm1Bhr exhibit a normally shaped skull, intraparietal bones of nearly normal size, and no premature fusion of coronal sutures

skeleton

clavicle hypoplasia ( J:90056 )

• notably, 10-day-old mice doubly heterozygotes for Runx2^tm1Mjo and Twist1^tm1Bhr continue to display the clavicle hypoplasia of Runx2^tm1Mjo heterozygotes

Genotype
MGI:3582481

cx16

• Allelic Composition: Runx2^tm1Mjo/Runx2⁺; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

skeleton

clavicle hypoplasia ( J:90056 )

• similar to Runx2^tm1Mjo heterozygotes, newborn mice doubly heterozygous for Runx2^tm1Mjo and Twist2^tm1Dor display hypoplastic clavicles

Genotype
MGI:3582480

cx17

• Allelic Composition: Runx2^tm1Mjo/Runx2⁺; Twist2^tm1(cre)Dor/Twist2^tm1(cre)Dor
• Genetic Background: involves: 129X1/SvJ * C57BL/6

skeleton

skeleton phenotype ( J:90056 )

N • newborns heterozygous for Runx2^tm1Mjo and homozygotes for Twist2^tm1Dor exhibit an almost complete rescue of the clavicle hypoplasia characteristic of Runx2^tm1Mjo heterozygotes

small interparietal bone ( J:90056 )

• similar to Runx2^tm1Mjo heterozygotes, newborns heterozygous for Runx2^tm1Mjo and homozygotes for Twist2^tm1Dor exhibit a reduction in the size of the intraparietal bone

delayed fontanelle closure ( J:90056 )

• similar to Runx2^tm1Mjo heterozygotes, newborns heterozygous for Runx2^tm1Mjo and homozygotes for Twist2^tm1Dor display a delay in closure of the fontanelles

craniofacial

small interparietal bone ( J:90056 )

• similar to Runx2^tm1Mjo heterozygotes, newborns heterozygous for Runx2^tm1Mjo and homozygotes for Twist2^tm1Dor exhibit a reduction in the size of the intraparietal bone

Genotype
MGI:5550514

cx18

• Allelic Composition: Hivep3^tm1Glm/Hivep3^tm1Glm; Runx2^tm1Mjo/Runx2⁺
• Genetic Background: involves: C57BL/6

Trabecular bone and clavicle analysis in various mice with Runx2^tm1Mjo and/or Hivep3^tm1Glm alleles

skeleton

clavicle hypoplasia ( J:201597 )

Genotype
MGI:4887973

cx19

• Allelic Composition: Runx2^tm1Mjo/Runx2⁺; Tg(Eno2tTA)#Nes/0; Tg(tetO-Zfp521)#Rbar/0
• Genetic Background: involves: C57BL/6 * SJL

skeleton

abnormal fontanelle morphology ( J:167992 )

• 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 Runx2^tm1Mjo heterozygotes

abnormal hyoid bone morphology ( J:167992 )

• the midportion of the hyoid bone fails to mineralize unlike in wild-type mice

clavicle hypoplasia ( J:167992 )

• to a greater extent than in Runx2^tm1Mjo heterozygotes

craniofacial

abnormal fontanelle morphology ( J:167992 )

• 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 Runx2^tm1Mjo heterozygotes

abnormal hyoid bone morphology ( J:167992 )

• the midportion of the hyoid bone fails to mineralize unlike in wild-type mice

Genotype
MGI:3696662

cx20

• Allelic Composition: Runx2^tm1Mjo/Runx2⁺; Satb2^tm1Rug/Satb2⁺
• Genetic Background: Not Specified

skeleton

abnormal bone structure ( J:115876 )

decreased bone volume ( J:115876 )

• bone volume/total volume is reduced from 15.5% in wild-type to 3.53% in mutants

decreased bone trabecula number ( J:115876 )

• trabecular numbers/mm are reduced from 4.54 in wild-type to 0.79 in mutants

abnormal bone ossification ( J:115876 )

• display a marked reduction of bone formation at E15.5

Genotype
MGI:4887971

cx21

• Allelic Composition: Runx2^tm1Mjo/Runx2⁺; Zfp521^tm2Ngc/Zfp521⁺
• Genetic Background: Not Specified

craniofacial

decreased hyoid bone size ( J:167992 )

• the mineralized midpoint of the hyoid bone is decreased in length compared to in wild-type mice

• however, mineralization occurs unlike in Runx2^tm1Mjo heterozygotes

skeleton

decreased hyoid bone size ( J:167992 )

• the mineralized midpoint of the hyoid bone is decreased in length compared to in wild-type mice

• however, mineralization occurs unlike in Runx2^tm1Mjo heterozygotes

clavicle hypoplasia ( J:167992 )

• clavicle is smaller than in wild-type mice but not as severely reduced as in Runx2^tm1Mjo heterozygotes