Phenotypes associated with this allele

• Allele Symbol: Twist2^{tm1.1(cre)Dor}
• Allele Name: targeted mutation 1.1, David M Ornitz
• Allele ID: MGI:3830850
• Summary: 11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6	MGI:3844725
cn2	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
cn3	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
cn4	Pten^tm1Hwu/Pten^tm1Hwu Twist2^tm1.1(cre)Dor/Twist2^+	B6.129-Twist2^tm1.1(cre)Dor Pten^tm1Hwu	MGI:5503192
cn5	Fgfr1^tm1Jpa/Fgfr1^tm1Jpa Fgfr2^tm1Dor/Fgfr2^tm1Dor Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:5694227
cn6	Mapkapk2^tm1.1Gkl/Mapkapk2^tm1.1Gkl Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * BALB/cJ * C57BL/6	MGI:6357718
cn7	Apc^Min/Apc^+ Mapkapk2^tm1.1Gkl/Mapkapk2^tm1.1Gkl Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * BALB/cJ * C57BL/6J	MGI:6357723
cn8	Mmp14^tm1Stjw/Mmp14^tm1Stjw Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6	MGI:5520088
cn9	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
cn10	Adam17^tm1.1Wesh/Adam17^tm1.1Wesh Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6 * FVB/N	MGI:5571469
cn11	Ptpra^tm1c(EUCOMM)Hmgu/Ptpra^tm1c(EUCOMM)Hmgu Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6N	MGI:6690443

Genotype
MGI:3844725

ht1

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

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

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:5659658

cn2

• 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

cn3

• 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

cn4

• 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:5694227

cn5

• 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:6357718

cn6

• 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

cn7

• 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

cn8

• 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:5571470

cn9

• 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

cn10

• 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:6690443

cn11

• 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