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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Twist2tm1(cre)Dor
targeted mutation 1, David M Ornitz
MGI:3044412
Summary 27 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Twist2tm1(cre)Dor/Twist2tm1(cre)Dor involves: 129/Sv * 129X1/SvJ MGI:3038292
hm2
Twist2tm1(cre)Dor/Twist2tm1(cre)Dor involves: 129X1/SvJ * C57BL/6 MGI:4942182
ht3
Twist2tm1(cre)Dor/Twist2+ involves: 129X1/SvJ MGI:3044686
cn4
Mirc32tm1.1Jtm/Mirc32tm1.1Jtm
Twist2tm1(cre)Dor/Twist2+
B6.129(Cg)-Twist2tm1.1(cre)Dor Mirc32tm1.1Jtm MGI:5707652
cn5
Robo1tm1Matl/Robo1tm1Matl
Robo2tm1Rilm/Robo2tm1Rilm
Twist2tm1(cre)Dor/Twist2+
involves: 129 * 129X1/SvJ MGI:5522801
cn6
Hdac8tm1.1Eno/Y
Twist2tm1(cre)Dor/Twist2+
involves: 129 * C57BL/6 * CD-1 * SJL MGI:3851917
cn7
Fgf10tm1Ska/Fgf10tm1Sms
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Twist2tm1(cre)Dor/Twist2+
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA MGI:3851799
cn8
Lrp6tm1.1Vari/Lrp6tm1.1Vari
Twist2tm1(cre)Dor/Twist2+
involves: 129S1/Sv * 129X1/SvJ MGI:5299320
cn9
Twist2tm1(cre)Dor/Twist2+
Wnt7btm1Parr/Wnt7btm2Amc
involves: 129S1/Sv * 129X1/SvJ MGI:3841730
cn10
Lrp5tm1.1Vari/Lrp5tm1.2Vari
Twist2tm1(cre)Dor/Twist2+
involves: 129S1/Sv * 129X1/SvJ MGI:5299319
cn11
Lrp6tm1.1Vari/Lrp6tm1.2Vari
Twist2tm1(cre)Dor/Twist2+
involves: 129S1/Sv * 129X1/SvJ MGI:5299321
cn12
Lrp5tm1.1Vari/Lrp5tm1.1Vari
Lrp6tm1.1Vari/Lrp6tm1.1Vari
Twist2tm1(cre)Dor/Twist2+
involves: 129S1/Sv * 129X1/SvJ MGI:5299323
cn13
Lrp5tm1.2Vari/Lrp5tm1.2Vari
Lrp6tm1.1Vari/Lrp6tm1.1Vari
Twist2tm1(cre)Dor/Twist2+
involves: 129S1/Sv * 129X1/SvJ MGI:5299324
cn14
Ctnnb1tm2Kem/Ctnnb1tm2Kem
Twist2tm1(cre)Dor/Twist2+
involves: 129S1/Sv * 129X1/SvJ MGI:5299325
cn15
Fgfr1tm1Jpa/Fgfr1tm1.1Jpa
Fgfr2tm1Dor/Fgfr2tm1.1Dor
Twist2tm1(cre)Dor/Twist2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3813486
cn16
Fgfr1tm1Jpa/Fgfr1tm1.1Jpa
Fgfr2tm1Dor/Fgfr2+
Twist2tm1(cre)Dor/Twist2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3813483
cn17
Fgfr1tm1Jpa/Fgfr1+
Fgfr2tm1Dor/Fgfr2tm1.1Dor
Twist2tm1(cre)Dor/Twist2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3813484
cn18
Nfibtm2Rmg/Nfibtm2Rmg
Twist2tm1(cre)Dor/Twist2+
involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 MGI:5052293
cn19
Ctnnb1tm1Yy/Ctnnb1tm1Yy
Twist2tm1(cre)Dor/Twist2+
involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 MGI:3056292
cn20
Epha4tm1.1Bzh/Epha4tm1.1Bzh
Tg(Hlxb9-GFP)1Tmj/0
Twist2tm1(cre)Dor/Twist2+
involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N MGI:6406424
cn21
Mef2ctm1Eno/Mef2ctm2Eno
Twist2tm1(cre)Dor/Twist2+
involves: 129S/SvEv * 129S7/SvEvBrd * 129X1/SvJ MGI:3719010
cn22
Fgfr2tm1Dor/Fgfr2tm1.1Dor
Twist2tm1(cre)Dor/Twist2+
involves: 129X1/SvJ MGI:3044704
cn23
Ctnna1tm1Efu/Ctnna1tm1Efu
Twist2tm1(cre)Dor/Twist2+
involves: 129X1/SvJ MGI:5299326
cn24
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm
Twist2tm1(cre)Dor/Twist2+
involves: 129X1/SvJ * C57BL/6 MGI:4943503
cx25
Twist1tm1Bhr/Twist1+
Twist2tm1(cre)Dor/Twist2+
involves: 129/Sv * 129X1/SvJ MGI:3038295
cx26
Runx2tm1Mjo/Runx2+
Twist2tm1(cre)Dor/Twist2tm1(cre)Dor
involves: 129X1/SvJ * C57BL/6 MGI:3582480
cx27
Runx2tm1Mjo/Runx2+
Twist2tm1(cre)Dor/Twist2+
involves: 129X1/SvJ * C57BL/6 MGI:3582481


Genotype
MGI:3038292
hm1
Allelic
Composition
Twist2tm1(cre)Dor/Twist2tm1(cre)Dor
Genetic
Background
involves: 129/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 60% dead by 3 days after birth

adipose tissue
• complete absence of subcutaneous fat at the nape of the neck
• amount of subcutaneous fat is prominently reduced
• adipose deficiency and atrophy observed in multiple tissues during neonatal period
• adipocytes have fewer lipid cytoplasmic vacuoles than wild-type
• interscapular brown fat adipocytes are atrophic in neonatal (2-day old) pups
• interscapular brown fat adipocytes are atrophic in neonatal (2-day old) pups

behavior/neurological
• prior to death

growth/size/body

hematopoietic system
• effacement of normal thymic microarchitecture is observed in neonatal animals (2 days of age)
• poorly defined in 2-day old pups due to loss of normal thymic architecture
• poorly defined in 2-day old pups due to loss of normal thymic architecture
• spleen shows effacement of the normal architecture due to lymphoid depletion in white pulp
• severe lymphoid depletion

homeostasis/metabolism
• serum glucose is about half of that in wild-type animals at 2 days postnatal
• hepatic glycogen stores are lost
• glycogen is absent from liver in 2-day old animals but is present prenatally
• glycogen is absent from skeletal muscle in 2-day old animals but is present prenatally
• increased expresssion of IL-1beta and IL-6 in skin and skeletal muscle
• increased expression in skin and skeletal muscle
• elevated serum levels

immune system
• effacement of normal thymic microarchitecture is observed in neonatal animals (2 days of age)
• poorly defined in 2-day old pups due to loss of normal thymic architecture
• poorly defined in 2-day old pups due to loss of normal thymic architecture
• spleen shows effacement of the normal architecture due to lymphoid depletion in white pulp
• severe lymphoid depletion
• increased expresssion of IL-1beta and IL-6 in skin and skeletal muscle
• increased expression in skin and skeletal muscle
• elevated serum levels

liver/biliary system
• hepatic glycogen stores are lost
• glycogen is absent from liver in 2-day old animals but is present prenatally
• atrophic, with microvesicular vacuolization, consistent with depletion of glycogen stores

muscle
• prior to death
• in 2-day old animals, increase in apoptotic cells is observed; in older pups, myofiber breakdown is observed
• glycogen is absent from skeletal muscle in 2-day old animals but is present prenatally

skeleton
• at E14, homozygotes display premature osteoblast differentiation and vascular invasion in skeletal elements ossifying through intramembranous (clavicles) or endochondral mechanism (ribs)
• at E14, cuboidal osteocalcin-expressing osteoblasts are organized in bone collar-like structures around the developing ribs in homozygous null but not in wild-type embryos

integument
• complete absence of subcutaneous fat at the nape of the neck
• dermal layer is atrophic due to reduction in adipose tissue leading to striking decrease in dermal thickness
• atrophy with hyperkeratosis in the epidermis
• atrophy with hyperkeratosis in the epidermis

cellular
• at E14, homozygotes display premature osteoblast differentiation and vascular invasion in skeletal elements ossifying through intramembranous (clavicles) or endochondral mechanism (ribs)
• at E14, cuboidal osteocalcin-expressing osteoblasts are organized in bone collar-like structures around the developing ribs in homozygous null but not in wild-type embryos

endocrine/exocrine glands
• effacement of normal thymic microarchitecture is observed in neonatal animals (2 days of age)
• poorly defined in 2-day old pups due to loss of normal thymic architecture
• poorly defined in 2-day old pups due to loss of normal thymic architecture




Genotype
MGI:4942182
hm2
Allelic
Composition
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:
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• mice lack epidermal appendages unlike wild-type mice
• eyelashes are sparse or absent (lower lashes are absent) unlike in wild-type mice
• between the ears and eyes
• lower lashes are absent
• mice exhibit hypoplastic dermis unlike wild-type mice
• mice exhibit absent or hypoplastic Meibomian glands unlike wild-type mice
• mice exhibit absent or hypoplastic Meibomian glands unlike wild-type mice
• mice exhibit bitemporal lesions unlike wild-type mice

vision/eye
• mice exhibit absent or hypoplastic Meibomian glands unlike wild-type mice
• mice exhibit absent or hypoplastic Meibomian glands unlike wild-type mice
• lower lashes are absent

craniofacial
• snout is narrow
• ears are dysmorphic and low-set unlike wild-type mice

endocrine/exocrine glands
• mice exhibit absent or hypoplastic Meibomian glands unlike wild-type mice
• mice exhibit absent or hypoplastic Meibomian glands unlike wild-type mice

hearing/vestibular/ear
• ears are dysmorphic and low-set unlike wild-type mice

adipose tissue

growth/size/body
• mice exhibit short anterior-posterior head diameters compared with wild-type mice
• snout is narrow
• ears are dysmorphic and low-set unlike wild-type mice




Genotype
MGI:3044686
ht3
Allelic
Composition
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice were reported to be phenotypically normal




Genotype
MGI:5707652
cn4
Allelic
Composition
Mirc32tm1.1Jtm/Mirc32tm1.1Jtm
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
B6.129(Cg)-Twist2tm1.1(cre)Dor Mirc32tm1.1Jtm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mirc32tm1.1Jtm mutation (1 available); any Mirc32 mutation (3 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• lamina propia myofibroblasts within the ulcers of DSS treated (+ 2 days recovery) mice are disorganized and fail to elongate along the basal-luminal axis
• intestinal crypts do not regenerate in DSS treated (+ 2 days recovery) mice
• observed in DSS treated (+ 2 days recovery) mice
• colons from DSS treated (+ 2 days recovery) mice remain hemorrhagic , necrotic and lack hyper proliferative crypts
• observed in DSS treated (+ 2 days recovery) mice
• 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
• intestinal crypts do not regenerate in DSS treated (+ 2 days recovery) mice

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

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

mortality/aging
• 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:5522801
cn5
Allelic
Composition
Robo1tm1Matl/Robo1tm1Matl
Robo2tm1Rilm/Robo2tm1Rilm
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129 * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Robo1tm1Matl mutation (2 available); any Robo1 mutation (87 available)
Robo2tm1Rilm mutation (1 available); any Robo2 mutation (101 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

digestive/alimentary system
• closer attachment of foregut to the body wall
• shorter

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

respiratory system
• inability to inflate lungs at birth




Genotype
MGI:3851917
cn6
Allelic
Composition
Hdac8tm1.1Eno/Y
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129 * C57BL/6 * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hdac8tm1.1Eno mutation (0 available); any Hdac8 mutation (10 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• no abnormal phenotype is detected in skull development




Genotype
MGI:3851799
cn7
Allelic
Composition
Fgf10tm1Ska/Fgf10tm1Sms
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf10tm1Ska mutation (1 available); any Fgf10 mutation (33 available)
Fgf10tm1Sms mutation (0 available); any Fgf10 mutation (33 available)
Gt(ROSA)26Sortm1Sor mutation (7 available); any Gt(ROSA)26Sor mutation (993 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• E17.5 embryos often have hemorrhaging in the lung
• 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
• 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
• at E17.5, mutant lobes are smaller and much flatter than control lobes
• at E12.5, the accessory lobe is reduced in size and often misshapen
• 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
• at E12.5, the medial lobe is reduced in size and often misshapen
• at E17.5, mutant lobes are smaller than control lobes
• at E12.5, mutant lungs are smaller than control lungs
• at E17.5, mutant lungs are severely hypoplastic

cardiovascular system
• E17.5 embryos often have hemorrhaging in the lung




Genotype
MGI:5299320
cn8
Allelic
Composition
Lrp6tm1.1Vari/Lrp6tm1.1Vari
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6tm1.1Vari mutation (1 available); any Lrp6 mutation (95 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• mice exhibit relatively normal skeleton
• at E17.5, mice exhibit a slight delay in ossification of the skull compared with control mice




Genotype
MGI:3841730
cn9
Allelic
Composition
Twist2tm1(cre)Dor/Twist2+
Wnt7btm1Parr/Wnt7btm2Amc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
Wnt7btm1Parr mutation (1 available); any Wnt7b mutation (17 available)
Wnt7btm2Amc mutation (1 available); any Wnt7b mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• calvaria cells from neonates and bone marrow stromal cells from adults produce fewer bone nodules than wild-type cells
• 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
• calvaria cells from neonates and bone marrow stromal cells from adults produce fewer bone nodules than wild-type cells




Genotype
MGI:5299319
cn10
Allelic
Composition
Lrp5tm1.1Vari/Lrp5tm1.2Vari
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp5tm1.1Vari mutation (1 available); any Lrp5 mutation (82 available)
Lrp5tm1.2Vari mutation (0 available); any Lrp5 mutation (82 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• mice exhibit relatively normal skeleton




Genotype
MGI:5299321
cn11
Allelic
Composition
Lrp6tm1.1Vari/Lrp6tm1.2Vari
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6tm1.1Vari mutation (1 available); any Lrp6 mutation (95 available)
Lrp6tm1.2Vari mutation (0 available); any Lrp6 mutation (95 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• mice exhibit relatively normal skeleton
• at E17.5, mice exhibit a slight delay in ossification of the skull compared with control mice




Genotype
MGI:5299323
cn12
Allelic
Composition
Lrp5tm1.1Vari/Lrp5tm1.1Vari
Lrp6tm1.1Vari/Lrp6tm1.1Vari
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp5tm1.1Vari mutation (1 available); any Lrp5 mutation (82 available)
Lrp6tm1.1Vari mutation (1 available); any Lrp6 mutation (95 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die shortly after birth

skeleton
• all skeletal elements are shortened
• mice exhibit partial bone collar
• mice exhibit extra cartilage elements (typically 4) in the zeugopod and in some autopods
• at the diaphysis
• 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

limbs/digits/tail

craniofacial




Genotype
MGI:5299324
cn13
Allelic
Composition
Lrp5tm1.2Vari/Lrp5tm1.2Vari
Lrp6tm1.1Vari/Lrp6tm1.1Vari
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp5tm1.2Vari mutation (0 available); any Lrp5 mutation (82 available)
Lrp6tm1.1Vari mutation (1 available); any Lrp6 mutation (95 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die shortly after birth

skeleton
• all skeletal elements are shortened
• mice exhibit partial bone collar
• mature osteoblasts fail to form
• mice exhibit extra cartilage elements (typically 4) in the zeugopod and in some autopods
• at the diaphysis and surrounding the marrow cavity
• mice lack joints at multiple locations including the knees
• at E14.5, mice exhibit a delay in chondrocyte hypertrophy
• profound defect in ossification of the craniofacial, the rest of the axial, and the appendicular skeleton
• partial ossification of the scapula and ileum
• except for the scapula and ileum

growth/size/body

cellular
• mature osteoblasts fail to form

limbs/digits/tail
• mice exhibit an additional element bridging the zeugopod and stylopod

craniofacial




Genotype
MGI:5299325
cn14
Allelic
Composition
Ctnnb1tm2Kem/Ctnnb1tm2Kem
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1tm2Kem mutation (1 available); any Ctnnb1 mutation (49 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• all skeletal elements are shortened
• unfused sterna
• at E18.5, mice exhibit a slight shortening of the bone collar in the long bones
• mice lack bones
• mature osteoblasts fail to form
• mice exhibit extra cartilage elements in the limbs
• from the diaphyseal perichondrium into the marrow cavity
• mice lack joints at multiple locations including the knees
• except for the scapula and ileum

cellular
• mature osteoblasts fail to form




Genotype
MGI:3813486
cn15
Allelic
Composition
Fgfr1tm1Jpa/Fgfr1tm1.1Jpa
Fgfr2tm1Dor/Fgfr2tm1.1Dor
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1.1Jpa mutation (0 available); any Fgfr1 mutation (223 available)
Fgfr1tm1Jpa mutation (0 available); any Fgfr1 mutation (223 available)
Fgfr2tm1.1Dor mutation (0 available); any Fgfr2 mutation (90 available)
Fgfr2tm1Dor mutation (3 available); any Fgfr2 mutation (90 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• there is about a third reduction in the length of the small intestine at E18.5 compared to controls
• premature crypt-like structures occur in the small intestine of E18.5 embryos before the appearance of paneth cells
• proliferation of fibroblasts found in the proximal and distal small intestine mesenchyme is significantly reduced at E18.5

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




Genotype
MGI:3813483
cn16
Allelic
Composition
Fgfr1tm1Jpa/Fgfr1tm1.1Jpa
Fgfr2tm1Dor/Fgfr2+
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1.1Jpa mutation (0 available); any Fgfr1 mutation (223 available)
Fgfr1tm1Jpa mutation (0 available); any Fgfr1 mutation (223 available)
Fgfr2tm1Dor mutation (3 available); any Fgfr2 mutation (90 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• there is about a 15% reduction in the length of the small intestine at E18.5 compared to controls




Genotype
MGI:3813484
cn17
Allelic
Composition
Fgfr1tm1Jpa/Fgfr1+
Fgfr2tm1Dor/Fgfr2tm1.1Dor
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1Jpa mutation (0 available); any Fgfr1 mutation (223 available)
Fgfr2tm1.1Dor mutation (0 available); any Fgfr2 mutation (90 available)
Fgfr2tm1Dor mutation (3 available); any Fgfr2 mutation (90 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• there is about a 15% reduction in the length of the small intestine at E18.5 compared to controls




Genotype
MGI:5052293
cn18
Allelic
Composition
Nfibtm2Rmg/Nfibtm2Rmg
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S4/SvJae * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfibtm2Rmg mutation (1 available); any Nfib mutation (91 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• despite normal Mendelian ratios at E18.5, no live born mice are recovered at P0

respiratory system
• at E16.5 and E18.5, lungs exhibit aberrant clefts unlike in wild-type mice
• mice exhibit decreased differentiation of epithelial type I, type II, and ciliated cells compared to in wild-type mice
• 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




Genotype
MGI:3056292
cn19
Allelic
Composition
Ctnnb1tm1Yy/Ctnnb1tm1Yy
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1tm1Yy mutation (0 available); any Ctnnb1 mutation (49 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• fused joints are seen in the elbow, hip, knee, ankle, and digit regions




Genotype
MGI:6406424
cn20
Allelic
Composition
Epha4tm1.1Bzh/Epha4tm1.1Bzh
Tg(Hlxb9-GFP)1Tmj/0
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epha4tm1.1Bzh mutation (1 available); any Epha4 mutation (67 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
cn21
Allelic
Composition
Mef2ctm1Eno/Mef2ctm2Eno
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S/SvEv * 129S7/SvEvBrd * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mef2ctm1Eno mutation (0 available); any Mef2c mutation (34 available)
Mef2ctm2Eno mutation (0 available); any Mef2c mutation (34 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• none survive beyond the first week of life

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

skeleton
• truncation of the fibula is severe
• truncation of the tibia is severe
• sternum and radius show completely absence of trabeculated bone
• 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
• vertebral bodies and the supraoccipital bone fail to ossify and many phalangeal bones of the digits lack ossification

limbs/digits/tail
• truncation of the fibula is severe
• truncation of the tibia is severe




Genotype
MGI:3044704
cn22
Allelic
Composition
Fgfr2tm1Dor/Fgfr2tm1.1Dor
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm1.1Dor mutation (0 available); any Fgfr2 mutation (90 available)
Fgfr2tm1Dor mutation (3 available); any Fgfr2 mutation (90 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• osteoclasts were more mature (larger) than in control mice, but osteoclast activity did not differ from that of wild-type
• impaired osteoblast proliferation
• no increase in osteoblast apoptosis
• the mineral apposition rate (MAR) was undetectable at 3 and 4 weeks of age

craniofacial

growth/size/body
• characterized by reduced bone growth
• 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
• reduced length

skeleton
• the mineral apposition rate (MAR) was undetectable at 3 and 4 weeks of age
• shortened appendicular skeleton
• reduced length
• 40% decrease in metaphyseal area due to a reduction in the trabecular zone length and width
• shortened axial skeleton
• observed in some mice
• non-ossified gap in the dorsal midline of both the cervical and thoracic vertebrae
• bone mineral density was reduced in all mice
• though density increased with age, it remained decreased relative to that of wild-type
• while osteoblast differentiation was not affected, osteogenic regions contained fewer osteoblasts due to impaired proliferation
• several tarsal joins failed to develop, putatively due to a a failure of cavitation of the cartilaginous anlage prior to ossificiation of these bones
• skeletal dwarfism and decreased bone density
• decreased amount of trabecular bone; in some cases it was absent
• osteoclasts were more mature (larger) than in control mice, but osteoclast activity did not differ from that of wild-type
• reduced hypertrophic chondrocyte zone

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

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




Genotype
MGI:5299326
cn23
Allelic
Composition
Ctnna1tm1Efu/Ctnna1tm1Efu
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnna1tm1Efu mutation (1 available); any Ctnna1 mutation (133 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• mice exhibit minimal effects on prenatal skeletal development
• at E15, mice exhibit a delay in chondrocyte hypertrophy
• at E18.5, ossification in the skull is slightly delayed




Genotype
MGI:4943503
cn24
Allelic
Composition
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfbr2tm1.2Hlm mutation (0 available); any Tgfbr2 mutation (40 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fetuses die by E16-E17 due to multi-organ abnormalities

respiratory system
• epithelial branching morphogenesis is disrupted causing cystic malformations in proximal airways
• however, lung epithelial cell identity and differentiation remain unaffected
• 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 epithelial morphogenesis results in cystic, dilated bronchi that lack parabronchial smooth muscle cells
• at E15.5, the first and the second generation bronchi are devoid of cartilage
• at E15.5, fetuses display large, dilated proximal airways lined with columnar epithelial cells
• at E15.5, both the number and shape of tracheal cartilage is abnormal
• at E15.5, the number of tracheal cartilage rings appears to be reduced

skeleton
• at E15.5, both the number and shape of tracheal cartilage is abnormal
• at E15.5, the number of tracheal cartilage rings appears to be reduced




Genotype
MGI:3038295
cx25
Allelic
Composition
Twist1tm1Bhr/Twist1+
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist1tm1Bhr mutation (4 available); any Twist1 mutation (18 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• observed lethality is similar to that of Twist2tm1(cre)Dor homozygotes

growth/size/body
• postnatal wasting is similar to Twist2tm1(cre)Dor homozygotes

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




Genotype
MGI:3582480
cx26
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 (44 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 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:3582481
cx27
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 (44 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 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





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory