Phenotypes associated with this allele

• Allele Symbol: Twist2⁺
• Allele Name: wild type
• Allele ID: MGI:3038293
• Summary: 38 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Twist2^tm1.1(KOMP)Vlcg/Twist2^+	C57BL/6N-Twist2^tm1.1(KOMP)Vlcg/Ucd	MGI:5797895
ht2	Twist2^tm1(cre)Dor/Twist2^+	involves: 129X1/SvJ	MGI:3044686
ht3	Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6	MGI:3844725
cn4	Mirc32^tm1.1Jtm/Mirc32^tm1.1Jtm Twist2^tm1(cre)Dor/Twist2^+	B6.129(Cg)-Twist2^tm1.1(cre)Dor Mirc32^tm1.1Jtm	MGI:5707652
cn5	Snai1^tm1.1Stjw/Snai1^tm1.1Stjw Twist2^tm1.1(cre)Dor/Twist2^+	B6.129(SJL)-Twist2^tm1.1(cre)Dor Snai1^tm1.1Stjw	MGI:5659658
cn6	Kdr^tm1Jrt/Kdr^+ Pten^tm1Hwu/Pten^tm1Hwu Twist2^tm1.1(cre)Dor/Twist2^+	B6.129-Twist2^tm1.1(cre)Dor Kdr^tm1Jrt Pten^tm1Hwu	MGI:5503216
cn7	Pten^tm1Hwu/Pten^tm1Hwu Twist2^tm1.1(cre)Dor/Twist2^+	B6.129-Twist2^tm1.1(cre)Dor Pten^tm1Hwu	MGI:5503192
cn8	Robo1^tm1Matl/Robo1^tm1Matl Robo2^tm1Rilm/Robo2^tm1Rilm Twist2^tm1(cre)Dor/Twist2^+	involves: 129 * 129X1/SvJ	MGI:5522801
cn9	Hdac8^tm1.1Eno/Y Twist2^tm1(cre)Dor/Twist2^+	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:3851917
cn10	Fgf10^tm1Ska/Fgf10^tm1Sms Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Twist2^tm1(cre)Dor/Twist2^+	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA	MGI:3851799
cn11	Ctnnb1^tm2Kem/Ctnnb1^tm2Kem Twist2^tm1(cre)Dor/Twist2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:5299325
cn12	Twist2^tm1(cre)Dor/Twist2^+ Wnt7b^tm1Parr/Wnt7b^tm2Amc	involves: 129S1/Sv * 129X1/SvJ	MGI:3841730
cn13	Lrp5^tm1.1Vari/Lrp5^tm1.2Vari Twist2^tm1(cre)Dor/Twist2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:5299319
cn14	Lrp6^tm1.1Vari/Lrp6^tm1.1Vari Twist2^tm1(cre)Dor/Twist2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:5299320
cn15	Lrp6^tm1.1Vari/Lrp6^tm1.2Vari Twist2^tm1(cre)Dor/Twist2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:5299321
cn16	Lrp5^tm1.1Vari/Lrp5^tm1.1Vari Lrp6^tm1.1Vari/Lrp6^tm1.1Vari Twist2^tm1(cre)Dor/Twist2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:5299323
cn17	Lrp5^tm1.2Vari/Lrp5^tm1.2Vari Lrp6^tm1.1Vari/Lrp6^tm1.1Vari Twist2^tm1(cre)Dor/Twist2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:5299324
cn18	Fgfr1^tm1Jpa/Fgfr1^tm1Jpa Fgfr2^tm1Dor/Fgfr2^tm1Dor Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:5694227
cn19	Fgfr1^tm1Jpa/Fgfr1^tm1.1Jpa Fgfr2^tm1Dor/Fgfr2^tm1.1Dor Twist2^tm1(cre)Dor/Twist2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3813486
cn20	Fgfr1^tm1Jpa/Fgfr1^+ Fgfr2^tm1Dor/Fgfr2^tm1.1Dor Twist2^tm1(cre)Dor/Twist2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3813484
cn21	Fgfr1^tm1Jpa/Fgfr1^tm1.1Jpa Fgfr2^tm1Dor/Fgfr2^+ Twist2^tm1(cre)Dor/Twist2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3813483
cn22	Nfib^tm2Rmg/Nfib^tm2Rmg Twist2^tm1(cre)Dor/Twist2^+	involves: 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:5052293
cn23	Ctnnb1^tm1Yy/Ctnnb1^tm1Yy Twist2^tm1(cre)Dor/Twist2^+	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6	MGI:3056292
cn24	Epha4^tm1.1Bzh/Epha4^tm1.1Bzh Tg(Hlxb9-GFP)1Tmj/0 Twist2^tm1(cre)Dor/Twist2^+	involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N	MGI:6406424
cn25	Mef2c^tm1Eno/Mef2c^tm2Eno Twist2^tm1(cre)Dor/Twist2^+	involves: 129S/SvEv * 129S7/SvEvBrd * 129X1/SvJ	MGI:3719010
cn26	Fgfr2^tm1Dor/Fgfr2^tm1.1Dor Twist2^tm1(cre)Dor/Twist2^+	involves: 129X1/SvJ	MGI:3044704
cn27	Ctnna1^tm1Efu/Ctnna1^tm1Efu Twist2^tm1(cre)Dor/Twist2^+	involves: 129X1/SvJ	MGI:5299326
cn28	Mapkapk2^tm1.1Gkl/Mapkapk2^tm1.1Gkl Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * BALB/cJ * C57BL/6	MGI:6357718
cn29	Apc^Min/Apc^+ Mapkapk2^tm1.1Gkl/Mapkapk2^tm1.1Gkl Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * BALB/cJ * C57BL/6J	MGI:6357723
cn30	Mmp14^tm1Stjw/Mmp14^tm1Stjw Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6	MGI:5520088
cn31	Tgfbr2^tm1.2Hlm/Tgfbr2^tm1.2Hlm Twist2^tm1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6	MGI:4943503
cn32	Adam17^tm1.1Wesh/Adam17^tm1.1Wesh Tg(Scgb1a1-rtTA)2Jaw/0 Tg(tetO-cre)1Jaw/0 Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6 * FVB/N	MGI:5571470
cn33	Adam17^tm1.1Wesh/Adam17^tm1.1Wesh Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6 * FVB/N	MGI:5571469
cn34	Tbx1^tm1Dsr/Tbx1^tm1Dsr Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6J	MGI:7834412
cn35	Tbx1^tm1Dsr/Tbx1^tm1.1Dsr Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6J	MGI:7840103
cn36	Ptpra^tm1c(EUCOMM)Hmgu/Ptpra^tm1c(EUCOMM)Hmgu Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6N	MGI:6690443
cx37	Twist1^tm1Bhr/Twist1^+ Twist2^tm1(cre)Dor/Twist2^+	involves: 129/Sv * 129X1/SvJ	MGI:3038295
cx38	Runx2^tm1Mjo/Runx2^+ Twist2^tm1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6	MGI:3582481

Genotype
MGI:5797895

ht1

• Allelic Composition: Twist2^{tm1.1(KOMP)Vlcg}/Twist2⁺
• Genetic Background: C57BL/6N-Twist2^{tm1.1(KOMP)Vlcg}/Ucd
• Cell Lines: 13934A-B2

Data Sources

IMPC Data for Twist2

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

endocrine/exocrine glands

abnormal testis morphology ( J:211773 )

♂

IMPC - UCD

small testis ( J:211773 )

♂

IMPC - UCD

growth/size/body

enlarged lung ( J:211773 )

♂

IMPC - UCD

increased lung weight ( J:211773 )

♂

IMPC - UCD

reproductive system

abnormal testis morphology ( J:211773 )

♂

IMPC - UCD

small testis ( J:211773 )

♂

IMPC - UCD

respiratory system

abnormal lung morphology ( J:211773 )

♂

IMPC - UCD

enlarged lung ( J:211773 )

♂

IMPC - UCD

increased lung weight ( J:211773 )

♂

IMPC - UCD

Genotype
MGI:3044686

ht2

• Allelic Composition: Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129X1/SvJ

normal phenotype

no abnormal phenotype detected ( J:90391 )

• mice were reported to be phenotypically normal

Genotype
MGI:3844725

ht3

• Allelic Composition: Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:81485 )

• mice are viable and fertile and do not display any gross physical or behavioral abnormalities

Genotype
MGI:5707652

cn4

• Allelic Composition: Mirc32^tm1.1Jtm/Mirc32^tm1.1Jtm; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: B6.129(Cg)-Twist2^{tm1.1(cre)Dor} Mirc32^tm1.1Jtm

digestive/alimentary system

abnormal intestinal mucosa morphology ( J:214382 )

• lamina propia myofibroblasts within the ulcers of DSS treated (+ 2 days recovery) mice are disorganized and fail to elongate along the basal-luminal axis

abnormal large intestine crypts of Lieberkuhn morphology ( J:214382 )

• intestinal crypts do not regenerate in DSS treated (+ 2 days recovery) mice

intestinal ulcer ( J:214382 )

• observed in DSS treated (+ 2 days recovery) mice

abnormal colon morphology ( J:214382 )

• colons from DSS treated (+ 2 days recovery) mice remain hemorrhagic , necrotic and lack hyper proliferative crypts

colonic necrosis ( J:214382 )

• observed in DSS treated (+ 2 days recovery) mice

impaired intestine regeneration ( J:214382 )

• intestinal crypts do not regenerate in DSS treated (+ 2 days recovery) mice

• pH3+ (a mitotic marker) cells are restricted to crypt base and are reduced in number

increased susceptibility to induced colitis ( J:214382 )

• intestinal crypts do not regenerate in DSS treated (+ 2 days recovery) mice

endocrine/exocrine glands

abnormal large intestine crypts of Lieberkuhn morphology ( J:214382 )

• intestinal crypts do not regenerate in DSS treated (+ 2 days recovery) mice

immune system

increased susceptibility to induced colitis ( J:214382 )

• intestinal crypts do not regenerate in DSS treated (+ 2 days recovery) mice

mortality/aging

abnormal susceptibility to induced morbidity/mortality ( J:214382 )

• 50% of mice die within 3 days following the completion of 5 days (D5+3) of DSS treatment

• control mice exhibit almost complete recovery of intestinal mucosal architecture 9 days after DSS treatment

Genotype
MGI:5659658

cn5

• Allelic Composition: Snai1^tm1.1Stjw/Snai1^tm1.1Stjw; Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: B6.129(SJL)-Twist2^{tm1.1(cre)Dor} Snai1^tm1.1Stjw

normal phenotype

no abnormal phenotype detected ( J:214991 )

• viable with no gross abnormalities at E14.5 and P1

Genotype
MGI:5503216

cn6

• Allelic Composition: Kdr^tm1Jrt/Kdr⁺; Pten^tm1Hwu/Pten^tm1Hwu; Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: B6.129-Twist2^{tm1.1(cre)Dor} Kdr^tm1Jrt Pten^tm1Hwu

Defect in angioblast differentiation in Pten^tm1Hwu/Pten^tm1Hwu Kdr^tm1Jrt/Kdr⁺ Twist2^{tm1.1(cre)Dor}/Twist2⁺ mice

cardiovascular system

abnormal vasculogenesis ( J:192736 )

• vasculogenesis defect

• impaired differentiation of angioblasts into mature endothelial cells and blood vessels

respiratory system

abnormal lung morphology ( J:192736 )

• increase in angioblasts in E18.5 lungs

Genotype
MGI:5503192

cn7

• Allelic Composition: Pten^tm1Hwu/Pten^tm1Hwu; Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: B6.129-Twist2^{tm1.1(cre)Dor} Pten^tm1Hwu

Increase in mesenchymal cell proliferation in Pten^tm1Hwu/Pten^tm1Hwu Twist2^{tm1.1(cre)Dor}/Twist2⁺ mice

mortality/aging

neonatal lethality, complete penetrance ( J:192736 )

• mutants with less severe phenotypes die within 2-3 hours of birth, displaying cyanosis, chest retractions, and dyspnea

lethality throughout fetal growth and development, incomplete penetrance ( J:192736 )

• lethality between E15.5 and E18.5

respiratory system

abnormal lung morphology ( J:192736 )

• increase in collagen deposition in the lungs

• alveolar spaces are frequently lined by cuboidal cells with immature lamellar bodies

abnormal lung vasculature morphology ( J:192736 )

• reduction in distal capillary network density in E15.5 lungs

• the capillary network is misaligned with corresponding respiratory airways (airway/capillary uncoupling or dysplasia) at E18.5

• increase in the distance between the capillaries and the lumen of the airways

abnormal lung development ( J:192736 )

• marker analysis indicates expansion of the distal epithelial progenitor cell domain

abnormal lung-associated mesenchyme development ( J:192736 )

• E18.5 lungs exhibit a hypercellular mesenchymal compartment

• more than 5-fold increase in the number of CD45-CD31+ embryonic mesenchymal progenitor side population (E-SP) and CD45-CD31- E-SP cell populations in E17.5 lungs indicating an increase in lung mesenchymal progenitor cell populations

respiratory distress ( J:192736 )

• in mutants with less severe phenotypes that die within hours of birth

cardiovascular system

abnormal lung vasculature morphology ( J:192736 )

• reduction in distal capillary network density in E15.5 lungs

• the capillary network is misaligned with corresponding respiratory airways (airway/capillary uncoupling or dysplasia) at E18.5

• increase in the distance between the capillaries and the lumen of the airways

abnormal vascular development ( J:192736 )

• 44% of embryos lack of vascularization in entire embryos at E15.5

• E15.5 embryos show lack of vascularization in organs such as limbs and liver

• impaired differentiation of angioblasts into mature endothelial cells and blood vessels

hemorrhage ( J:192736 )

• 15% of embryos exhibit hemorrhage at E18.5

homeostasis/metabolism

decreased blood oxygen capacity ( J:192736 )

• newborns show a decrease in blood oxygenation

cyanosis ( J:192736 )

• in mutants with less severe phenotypes that die within hours of birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
persistent fetal circulation syndrome		DOID:13042	OMIM:265380	J:192736

Genotype
MGI:5522801

cn8

• Allelic Composition: Robo1^tm1Matl/Robo1^tm1Matl; Robo2^tm1Rilm/Robo2^tm1Rilm; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129 * 129X1/SvJ

mortality/aging

neonatal lethality ( J:193400 )

digestive/alimentary system

abnormal foregut morphology ( J:193400 )

• closer attachment of foregut to the body wall

small esophagus ( J:193400 )

• shorter

muscle

diaphragmatic hernia ( J:193400 )

• protrusion of the abdominal organs into the chest (stomach or liver)

respiratory system

respiratory failure ( J:193400 )

• inability to inflate lungs at birth

Genotype
MGI:3851917

cn9

• Allelic Composition: Hdac8^tm1.1Eno/Y; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129 * C57BL/6 * CD-1 * SJL

normal phenotype

no abnormal phenotype detected ( J:150709 )

♂ • no abnormal phenotype is detected in skull development

Genotype
MGI:3851799

cn10

• Allelic Composition: Fgf10^tm1Ska/Fgf10^tm1Sms; Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

respiratory system

lung hemorrhage ( J:150706 )

• E17.5 embryos often have hemorrhaging in the lung

abnormal lung development ( J:150706 )

• at E12, moderate increases in apoptosis are observed in the primary bronchi of both lungs

• cell death extended farther into the medial and accessory branches and there was a small area of ectopic death observed in the mesenchyme of either the vestigial rostral lobe or at the distal tip of the accessory lobe

impaired branching involved in bronchus morphogenesis ( J:150706 )

• all lobes exhibit reduced branching following outgrowth of the initial branch that established the lobe

• mesenchymal protrusions without an accompanying epithelial branch are occasionally observed during embryonic development

• such protrusions are observed only in the right lung in positions that correspond to lobes

abnormal lung lobe morphology ( J:150706 )

• at E17.5, mutant lobes are smaller and much flatter than control lobes

abnormal right lung accessory lobe morphology ( J:150706 )

• at E12.5, the accessory lobe is reduced in size and often misshapen

abnormal right lung cranial lobe morphology ( J:150706 )

• most E11.5 embryos have a reduction or absence of the nascent rostral lobe

• at E12.5, the rostral lobe is absent in the majority of mice

abnormal right lung middle lobe morphology ( J:150706 )

• at E12.5, the medial lobe is reduced in size and often misshapen

small lung lobe ( J:150706 )

• at E17.5, mutant lobes are smaller than control lobes

small lung ( J:150706 )

• at E12.5, mutant lungs are smaller than control lungs

pulmonary hypoplasia ( J:150706 )

• at E17.5, mutant lungs are severely hypoplastic

cardiovascular system

lung hemorrhage ( J:150706 )

• E17.5 embryos often have hemorrhaging in the lung

Genotype
MGI:5299325

cn11

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm2Kem; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

skeleton

abnormal skeleton morphology ( J:178499 )

• all skeletal elements are shortened

split sternum ( J:178499 )

• unfused sterna

abnormal bone structure ( J:178499 )

• at E18.5, mice exhibit a slight shortening of the bone collar in the long bones

• mice lack bones

arrested osteoblast differentiation ( J:178499 )

• mature osteoblasts fail to form

abnormal cartilage morphology ( J:178499 )

• mice exhibit extra cartilage elements in the limbs

ectopic cartilage ( J:178499 )

• from the diaphyseal perichondrium into the marrow cavity

abnormal joint morphology ( J:178499 )

• mice lack joints at multiple locations including the knees

failure of bone ossification ( J:178499 )

• except for the scapula and ileum

cellular

arrested osteoblast differentiation ( J:178499 )

• mature osteoblasts fail to form

Genotype
MGI:3841730

cn12

• Allelic Composition: Twist2^tm1(cre)Dor/Twist2⁺; Wnt7b^tm1Parr/Wnt7b^tm2Amc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

skeleton

abnormal osteoblast differentiation ( J:117333 )

• calvaria cells from neonates and bone marrow stromal cells from adults produce fewer bone nodules than wild-type cells

decreased width of hypertrophic chondrocyte zone ( J:117333 )

• at E15.5

abnormal bone ossification ( J:117333 )

• at E15.5, ossification if diminished compared to in wild-type mice

• bone collars of long bones are shorter than in wild-type mice

• at E18.5, skulls exhibit decreased ossification compared to in wild-type mice

cellular

abnormal osteoblast differentiation ( J:117333 )

• calvaria cells from neonates and bone marrow stromal cells from adults produce fewer bone nodules than wild-type cells

Genotype
MGI:5299319

cn13

• Allelic Composition: Lrp5^tm1.1Vari/Lrp5^tm1.2Vari; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

skeleton

skeleton phenotype ( J:178499 )

N • mice exhibit relatively normal skeleton

Genotype
MGI:5299320

cn14

• Allelic Composition: Lrp6^tm1.1Vari/Lrp6^tm1.1Vari; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

skeleton

skeleton phenotype ( J:178499 )

N • mice exhibit relatively normal skeleton

delayed bone ossification ( J:178499 )

• at E17.5, mice exhibit a slight delay in ossification of the skull compared with control mice

Genotype
MGI:5299321

cn15

• Allelic Composition: Lrp6^tm1.1Vari/Lrp6^tm1.2Vari; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

skeleton

skeleton phenotype ( J:178499 )

N • mice exhibit relatively normal skeleton

delayed bone ossification ( J:178499 )

• at E17.5, mice exhibit a slight delay in ossification of the skull compared with control mice

Genotype
MGI:5299323

cn16

• Allelic Composition: Lrp5^tm1.1Vari/Lrp5^tm1.1Vari; Lrp6^tm1.1Vari/Lrp6^tm1.1Vari; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

neonatal lethality, complete penetrance ( J:178499 )

• mice die shortly after birth

skeleton

abnormal skeleton morphology ( J:178499 )

• all skeletal elements are shortened

abnormal cranium morphology ( J:178499 )

split sternum ( J:178499 )

abnormal bone structure ( J:178499 )

• mice exhibit partial bone collar

abnormal trabecular bone morphology ( J:178499 )

• absent

abnormal cartilage morphology ( J:178499 )

• mice exhibit extra cartilage elements (typically 4) in the zeugopod and in some autopods

ectopic cartilage ( J:178499 )

• at the diaphysis

abnormal epiphyseal plate morphology ( J:178499 )

abnormal bone ossification ( J:178499 )

• profound defect in ossification of the craniofacial, the rest of the axial, and the appendicular skeleton

• partial ossification of the scapula and ileum

• however, some ossification of zeugopod elements and other skeletal elements is observed

growth/size/body

decreased body size ( J:178499 )

limbs/digits/tail

abnormal limb morphology ( J:178499 )

craniofacial

abnormal cranium morphology ( J:178499 )

Genotype
MGI:5299324

cn17

• Allelic Composition: Lrp5^tm1.2Vari/Lrp5^tm1.2Vari; Lrp6^tm1.1Vari/Lrp6^tm1.1Vari; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

neonatal lethality, complete penetrance ( J:178499 )

• mice die shortly after birth

skeleton

abnormal skeleton morphology ( J:178499 )

• all skeletal elements are shortened

abnormal cranium morphology ( J:178499 )

split sternum ( J:178499 )

abnormal bone structure ( J:178499 )

• mice exhibit partial bone collar

abnormal osteoblast differentiation ( J:178499 )

• mature osteoblasts fail to form

abnormal trabecular bone morphology ( J:178499 )

• absent

abnormal cartilage morphology ( J:178499 )

• mice exhibit extra cartilage elements (typically 4) in the zeugopod and in some autopods

ectopic cartilage ( J:178499 )

• at the diaphysis and surrounding the marrow cavity

abnormal joint morphology ( J:178499 )

• mice lack joints at multiple locations including the knees

abnormal epiphyseal plate morphology ( J:178499 )

decreased width of hypertrophic chondrocyte zone ( J:178499 )

• at E14.5, mice exhibit a delay in chondrocyte hypertrophy

abnormal bone ossification ( J:178499 )

• profound defect in ossification of the craniofacial, the rest of the axial, and the appendicular skeleton

• partial ossification of the scapula and ileum

failure of bone ossification ( J:178499 )

• except for the scapula and ileum

growth/size/body

decreased body size ( J:178499 )

cellular

abnormal osteoblast differentiation ( J:178499 )

• mature osteoblasts fail to form

limbs/digits/tail

abnormal limb morphology ( J:178499 )

• mice exhibit an additional element bridging the zeugopod and stylopod

craniofacial

abnormal cranium morphology ( J:178499 )

Genotype
MGI:5694227

cn18

• Allelic Composition: Fgfr1^tm1Jpa/Fgfr1^tm1Jpa; Fgfr2^tm1Dor/Fgfr2^tm1Dor; Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

reproductive system

genital tubercle hypoplasia ( J:223057 )

• small

abnormal reproductive system physiology ( J:223057 )

• reduced cell proliferation in genital mesenchyme

Genotype
MGI:3813486

cn19

• Allelic Composition: Fgfr1^tm1Jpa/Fgfr1^tm1.1Jpa; Fgfr2^tm1Dor/Fgfr2^tm1.1Dor; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

digestive/alimentary system

abnormal small intestine morphology ( J:139005 )

• there is about a third reduction in the length of the small intestine at E18.5 compared to controls

abnormal small intestine crypts of Lieberkuhn morphology ( J:139005 )

• premature crypt-like structures occur in the small intestine of E18.5 embryos before the appearance of paneth cells

abnormal digestive system physiology ( J:139005 )

• proliferation of fibroblasts found in the proximal and distal small intestine mesenchyme is significantly reduced at E18.5

endocrine/exocrine glands

abnormal small intestine crypts of Lieberkuhn morphology ( J:139005 )

• premature crypt-like structures occur in the small intestine of E18.5 embryos before the appearance of paneth cells

Genotype
MGI:3813484

cn20

• Allelic Composition: Fgfr1^tm1Jpa/Fgfr1⁺; Fgfr2^tm1Dor/Fgfr2^tm1.1Dor; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

digestive/alimentary system

abnormal small intestine morphology ( J:139005 )

• there is about a 15% reduction in the length of the small intestine at E18.5 compared to controls

Genotype
MGI:3813483

cn21

• Allelic Composition: Fgfr1^tm1Jpa/Fgfr1^tm1.1Jpa; Fgfr2^tm1Dor/Fgfr2⁺; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

digestive/alimentary system

abnormal small intestine morphology ( J:139005 )

• there is about a 15% reduction in the length of the small intestine at E18.5 compared to controls

Genotype
MGI:5052293

cn22

• Allelic Composition: Nfib^tm2Rmg/Nfib^tm2Rmg; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6

mortality/aging

perinatal lethality, complete penetrance ( J:173651 )

• despite normal Mendelian ratios at E18.5, no live born mice are recovered at P0

respiratory system

abnormal lung morphology ( J:173651 )

• at E16.5 and E18.5, lungs exhibit aberrant clefts unlike in wild-type mice

enlarged lung ( J:173651 )

abnormal lung development ( J:173651 )

• mice exhibit decreased differentiation of epithelial type I, type II, and ciliated cells compared to in wild-type mice

abnormal lung saccule morphology ( J:173651 )

• at E18.5

abnormal respiratory system physiology ( J:173651 )

• at E16.5 and E18.5, lung cells exhibit increased in epithelial (Ttf1+) and mesenchymal (Ttf1-) cell proliferation compared with cells mice

growth/size/body

enlarged lung ( J:173651 )

Genotype
MGI:3056292

cn23

• Allelic Composition: Ctnnb1^tm1Yy/Ctnnb1^tm1Yy; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6

skeleton

fused synovial joints ( J:93028 )

• fused joints are seen in the elbow, hip, knee, ankle, and digit regions

Genotype
MGI:6406424

cn24

• Allelic Composition: Epha4^tm1.1Bzh/Epha4^tm1.1Bzh; Tg(Hlxb9-GFP)1Tmj/0; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N

nervous system

abnormal innervation ( J:243785 )

• the abducens nerve exits the hindbrain with fewer nerve bundles, which initially wander in the mesenchymal area adjacent to the hindbrain exit before completely stalling in the mesenchyme leading to a reduction in abducens length and complete lack of both abducens innervation near the orbit and aberrant tracking with the facial nerve

• however, trochlear nerve and first cervical spine projections are normal

Genotype
MGI:3719010

cn25

• Allelic Composition: Mef2c^tm1Eno/Mef2c^tm2Eno; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd * 129X1/SvJ

mortality/aging

postnatal lethality, complete penetrance ( J:119152 )

• none survive beyond the first week of life

respiratory system

respiratory distress ( J:119152 )

• some mutants have difficulty breathing, evidenced by gasping and accumulation of air in the intestines

skeleton

short fibula ( J:119152 )

• truncation of the fibula is severe

short tibia ( J:119152 )

• truncation of the tibia is severe

abnormal trabecular bone morphology ( J:119152 )

• sternum and radius show completely absence of trabeculated bone

abnormal endochondral bone ossification ( J:119152 )

• mutants exhibit severe defects in ossification on nearly all endochondral bones, especially in the sternum

• ossification of the bone collar appears disorganized

• defects in endochondral ossification result from a failure of chondrocyte hypertrophy

failure of endochondral bone ossification ( J:119152 )

• vertebral bodies and the supraoccipital bone fail to ossify and many phalangeal bones of the digits lack ossification

limbs/digits/tail

short fibula ( J:119152 )

• truncation of the fibula is severe

short tibia ( J:119152 )

• truncation of the tibia is severe

short limbs ( J:119152 )

Genotype
MGI:3044704

cn26

• Allelic Composition: Fgfr2^tm1Dor/Fgfr2^tm1.1Dor; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129X1/SvJ

cellular

abnormal osteoclast differentiation ( J:90391 )

• osteoclasts were more mature (larger) than in control mice, but osteoclast activity did not differ from that of wild-type

decreased cell proliferation ( J:90391 )

• impaired osteoblast proliferation

• no increase in osteoblast apoptosis

abnormal osteoblast physiology ( J:90391 )

• the mineral apposition rate (MAR) was undetectable at 3 and 4 weeks of age

craniofacial

domed cranium ( J:90391 )

growth/size/body

disproportionate dwarf ( J:90391 )

• characterized by reduced bone growth

postnatal growth retardation ( J:90391 )

• mice were 40% to 50% smaller than wild-type controls at 4 weeks of age

• normal growth resumed but adult mice remained 30% to 40% smaller than wild-type controls

limbs/digits/tail

short femur ( J:90391 )

• reduced length

skeleton

abnormal osteoblast physiology ( J:90391 )

• the mineral apposition rate (MAR) was undetectable at 3 and 4 weeks of age

abnormal appendicular skeleton morphology ( J:90391 )

• shortened appendicular skeleton

short femur ( J:90391 )

• reduced length

abnormal long bone metaphysis morphology ( J:90391 )

• 40% decrease in metaphyseal area due to a reduction in the trabecular zone length and width

abnormal axial skeleton morphology ( J:90391 )

• shortened axial skeleton

domed cranium ( J:90391 )

abnormal vertebrae morphology ( J:90391 )

abnormal thoracic vertebrae morphology ( J:90391 )

abnormal cervical vertebrae morphology ( J:90391 )

abnormal vertebrae development ( J:90391 )

• observed in some mice

• non-ossified gap in the dorsal midline of both the cervical and thoracic vertebrae

absent vertebral spinous process ( J:90391 )

decreased bone mineral density ( J:90391 )

• bone mineral density was reduced in all mice

• though density increased with age, it remained decreased relative to that of wild-type

decreased osteoblast cell number ( J:90391 )

• while osteoblast differentiation was not affected, osteogenic regions contained fewer osteoblasts due to impaired proliferation

abnormal joint morphology ( J:90391 )

• several tarsal joins failed to develop, putatively due to a a failure of cavitation of the cartilaginous anlage prior to ossificiation of these bones

abnormal skeleton development ( J:90391 )

• skeletal dwarfism and decreased bone density

• decreased amount of trabecular bone; in some cases it was absent

abnormal osteoclast differentiation ( J:90391 )

• osteoclasts were more mature (larger) than in control mice, but osteoclast activity did not differ from that of wild-type

abnormal long bone hypertrophic chondrocyte zone ( J:90391 )

• reduced hypertrophic chondrocyte zone

hematopoietic system

abnormal osteoclast differentiation ( J:90391 )

• osteoclasts were more mature (larger) than in control mice, but osteoclast activity did not differ from that of wild-type

immune system

abnormal osteoclast differentiation ( J:90391 )

• osteoclasts were more mature (larger) than in control mice, but osteoclast activity did not differ from that of wild-type

Genotype
MGI:5299326

cn27

• Allelic Composition: Ctnna1^tm1Efu/Ctnna1^tm1Efu; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129X1/SvJ

skeleton

abnormal skeleton development ( J:178499 )

• mice exhibit minimal effects on prenatal skeletal development

decreased width of hypertrophic chondrocyte zone ( J:178499 )

• at E15, mice exhibit a delay in chondrocyte hypertrophy

delayed intramembranous bone ossification ( J:178499 )

• at E18.5, ossification in the skull is slightly delayed

Genotype
MGI:6357718

cn28

• Allelic Composition: Mapkapk2^tm1.1Gkl/Mapkapk2^tm1.1Gkl; Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: involves: 129X1/SvJ * BALB/cJ * C57BL/6

neoplasm

decreased incidence of tumors by chemical induction ( J:262876 )

• fewer smaller tumors induced by AOM/DSS

• however, development of induced colitis is normal

homeostasis/metabolism

decreased incidence of tumors by chemical induction ( J:262876 )

• fewer smaller tumors induced by AOM/DSS

• however, development of induced colitis is normal

Genotype
MGI:6357723

cn29

• Allelic Composition: Apc^Min/Apc⁺; Mapkapk2^tm1.1Gkl/Mapkapk2^tm1.1Gkl; Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: involves: 129X1/SvJ * BALB/cJ * C57BL/6J

neoplasm

decreased tumor growth/size ( J:262876 )

• compared with Apc^min heterozygotes

• reduced proliferation and increased apoptosis of tumor cells compared with Apc^min heterozygotes

decreased tumor incidence ( J:262876 )

• compared with Apc^min heterozygotes

Genotype
MGI:5520088

cn30

• Allelic Composition: Mmp14^tm1Stjw/Mmp14^tm1Stjw; Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

premature death ( J:198679 )

• 31 of 34 mice die by 120 to 150 days with no mice surviving beyond 10 months

skeleton

skeleton phenotype ( J:198679 )

N • mice exhibit normal osteoclast numbers

increased bone marrow adipose tissue amount ( J:198679 )

• increased bone marrow adiposity

domed cranium ( J:198679 )

decreased bone mineral density ( J:198679 )

abnormal cartilage morphology ( J:198679 )

• thickened articular cartilage

abnormal joint morphology ( J:198679 )

• thickened articular cartilage

abnormal bone ossification ( J:198679 )

delayed intramembranous bone ossification ( J:198679 )

delayed cranial suture closure ( J:198679 )

• failure of suture closure

growth/size/body

short snout ( J:198679 )

decreased body size ( J:198679 )

• by P4 to P5

decreased body weight ( J:198679 )

• by P4 to P5

postnatal growth retardation ( J:198679 )

• by P4 to P5

adipose tissue

increased bone marrow adipose tissue amount ( J:198679 )

• increased bone marrow adiposity

abnormal hypodermis fat layer morphology ( J:198679 )

• adipocytes that localized to dermal fat pads fail to generate subcutaneous fat

craniofacial

domed cranium ( J:198679 )

short snout ( J:198679 )

integument

abnormal hypodermis fat layer morphology ( J:198679 )

• adipocytes that localized to dermal fat pads fail to generate subcutaneous fat

Genotype
MGI:4943503

cn31

• Allelic Composition: Tgfbr2^tm1.2Hlm/Tgfbr2^tm1.2Hlm; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:143910 )

• fetuses die by E16-E17 due to multi-organ abnormalities

respiratory system

abnormal branching involved in lung morphogenesis ( J:143910 )

• epithelial branching morphogenesis is disrupted causing cystic malformations in proximal airways

• however, lung epithelial cell identity and differentiation remain unaffected

abnormal lung lobe morphology ( J:143910 )

• at E15.5, both the shape and size of lung lobes is abnormal

• however, the overall process of lobation and number of lobes are normal

abnormal bronchus morphology ( J:143910 )

• abnormal epithelial morphogenesis results in cystic, dilated bronchi that lack parabronchial smooth muscle cells

abnormal bronchial cartilage morphology ( J:143910 )

• at E15.5, the first and the second generation bronchi are devoid of cartilage

dilated respiratory conducting tube ( J:143910 )

• at E15.5, fetuses display large, dilated proximal airways lined with columnar epithelial cells

abnormal tracheal cartilage morphology ( J:143910 )

• at E15.5, both the number and shape of tracheal cartilage is abnormal

decreased tracheal cartilage ring number ( J:143910 )

• at E15.5, the number of tracheal cartilage rings appears to be reduced

skeleton

abnormal tracheal cartilage morphology ( J:143910 )

• at E15.5, both the number and shape of tracheal cartilage is abnormal

decreased tracheal cartilage ring number ( J:143910 )

• at E15.5, the number of tracheal cartilage rings appears to be reduced

Genotype
MGI:5571470

cn32

• Allelic Composition: Adam17^tm1.1Wesh/Adam17^tm1.1Wesh; Tg(Scgb1a1-rtTA)2Jaw/0; Tg(tetO-cre)1Jaw/0; Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N

mortality/aging

mortality/aging ( J:210193 )

N • doxycycline-treated mice exhibit normal neonatal survival

respiratory system

abnormal lung vasculature morphology ( J:210193 )

• reduced pulmonary capillary formation in doxycycline-treated mice

abnormal lung saccule morphology ( J:210193 )

• doxycycline-treated mice exhibit enlarged airspaces with fewer number of saccules and reduced epithelial cell differentiation compared with control mice

cellular

decreased cell proliferation ( J:210193 )

• in the lungs of doxycycline-treated mice

cardiovascular system

abnormal lung vasculature morphology ( J:210193 )

• reduced pulmonary capillary formation in doxycycline-treated mice

Genotype
MGI:5571469

cn33

• Allelic Composition: Adam17^tm1.1Wesh/Adam17^tm1.1Wesh; Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N

respiratory system

respiratory system phenotype ( J:210193 )

N • mice exhibit normal lung development

Genotype
MGI:7834412

cn34

• Allelic Composition: Tbx1^tm1Dsr/Tbx1^tm1Dsr; Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

craniofacial

craniofacial phenotype ( J:183770 )

N • no palatal phenotype

Genotype
MGI:7840103

cn35

• Allelic Composition: Tbx1^tm1Dsr/Tbx1^tm1.1Dsr; Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

mortality/aging

perinatal lethality, complete penetrance ( J:217210 )

craniofacial

craniofacial phenotype ( J:217210 )

N • mice exhibit normal open anterior or posterior fontanelles, as well as cranial sutures

interparietal bone hypoplasia ( J:217210 )

small supraoccipital bone ( J:217210 )

• in more than half of mice

parietal bone hypoplasia ( J:217210 )

• reduced in size

abnormal hyoid bone morphology ( J:217210 )

• fusion between the hyoid bone and thyroid cartilage

incus hypoplasia ( J:217210 )

abnormal malleus morphology ( J:217210 )

• delayed ossification

hearing/vestibular/ear

incus hypoplasia ( J:217210 )

abnormal malleus morphology ( J:217210 )

• delayed ossification

respiratory system

small thyroid cartilage ( J:217210 )

behavior/neurological

absent gastric milk in neonates ( J:217210 )

skeleton

interparietal bone hypoplasia ( J:217210 )

small supraoccipital bone ( J:217210 )

• in more than half of mice

parietal bone hypoplasia ( J:217210 )

• reduced in size

abnormal hyoid bone morphology ( J:217210 )

• fusion between the hyoid bone and thyroid cartilage

incus hypoplasia ( J:217210 )

abnormal malleus morphology ( J:217210 )

• delayed ossification

small thyroid cartilage ( J:217210 )

clavicle hypoplasia ( J:217210 )

split xiphoid process ( J:217210 )

abnormal cervical atlas morphology ( J:217210 )

abnormal cervical axis morphology ( J:217210 )

• hypoplastic ossification

abnormal periosteum morphology ( J:217210 )

• lack of sub-periosteal bone formation within the hyoid bone

Genotype
MGI:6690443

cn36

• Allelic Composition: Ptpra^{tm1c(EUCOMM)Hmgu}/Ptpra^{tm1c(EUCOMM)Hmgu}; Twist2^{tm1.1(cre)Dor}/Twist2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6N

homeostasis/metabolism

decreased susceptibility to injury ( J:300194 )

• bleomycin-treated mice are protected from pulmonary fibrosis

Genotype
MGI:3038295

cx37

• Allelic Composition: Twist1^tm1Bhr/Twist1⁺; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129/Sv * 129X1/SvJ

mortality/aging

neonatal lethality, incomplete penetrance ( J:81485 )

• observed lethality is similar to that of Twist2^tm1(cre)Dor homozygotes

growth/size/body

cachexia ( J:81485 )

• postnatal wasting is similar to Twist2^tm1(cre)Dor homozygotes

muscle

abnormal skeletal muscle morphology ( J:81485 )

• in 2-day old animals, increase in apoptotic cells is observed; in older pups, myofiber breakdown is observed

Genotype
MGI:3582481

cx38

• 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