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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tgfb2tm1Doe
targeted mutation 1, Thomas Doetschman
MGI:1888389
Summary 17 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tgfb2tm1Doe/Tgfb2tm1Doe involves: 129P2/OlaHsd MGI:5008268
hm2
Tgfb2tm1Doe/Tgfb2tm1Doe involves: 129P2/OlaHsd * Black Swiss MGI:2668213
hm3
Tgfb2tm1Doe/Tgfb2tm1Doe involves: 129P2/OlaHsd * C57BL/6 MGI:3848993
ht4
Tgfb2tm1Doe/Tgfb2+ involves: 129P2/OlaHsd MGI:5008270
ht5
Tgfb2tm1Doe/Tgfb2+ involves: 129P2/OlaHsd * Black Swiss MGI:2668214
ht6
Tgfb2tm1Doe/Tgfb2+ involves: 129/Sv * 129P2/OlaHsd * Black Swiss * C57BL/6J MGI:3758329
ht7
Tgfb2tm1Doe/Tgfb2+ STOCK Tgfb2tm1Doe/J MGI:5444484
cn8
Ext1tm1Yama/Ext1+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Tgfb2tm1Doe/Tgfb2+
B6.Cg-Tgfb2tm1Doe H2az2Tg(Wnt1-cre)11Rth Ext1tm1Yama MGI:4360749
cx9
Tgfb2tm1Doe/Tgfb2tm1Doe
Tgfb3tm1Doe/Tgfb3tm1Doe
involves: 129P2/OlaHsd MGI:5008266
cx10
Tgfb2tm1Doe/Tgfb2tm1Doe
Tgfb3tm1Doe/Tgfb3+
involves: 129P2/OlaHsd MGI:5008267
cx11
Tgfb2tm1Doe/Tgfb2+
Tgfb3tm1Doe/Tgfb3tm1Doe
involves: 129P2/OlaHsd MGI:5008265
cx12
Tgfb2tm1Doe/Tgfb2+
Tgfb3tm1Doe/Tgfb3+
involves: 129P2/OlaHsd MGI:5008269
cx13
Fbn1tm1Hcd/Fbn1+
Tgfb2tm1Doe/Tgfb2+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5444488
cx14
Cdkn2atm1(GFP)Cjs/Cdkn2atm1(GFP)Cjs
Tgfb2tm1Doe/Tgfb2tm1Doe
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 MGI:3848994
cx15
Cdkn2atm1(GFP)Cjs/Cdkn2atm1(GFP)Cjs
Tgfb2tm1Doe/Tgfb2+
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 MGI:3848995
cx16
Cdkn2atm1Cjs/Cdkn2a+
Tgfb2tm1Doe/Tgfb2tm1Doe
involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 MGI:3848999
cx17
Cdkn2atm1Sxs/Cdkn2a+
Tgfb2tm1Doe/Tgfb2tm1Doe
involves: 129/Sv * 129P2/OlaHsd * C57BL/6 MGI:3848997


Genotype
MGI:5008268
hm1
Allelic
Composition
Tgfb2tm1Doe/Tgfb2tm1Doe
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
N
• mice exhibit normal apoptosis of interdigital webbing




Genotype
MGI:2668213
hm2
Allelic
Composition
Tgfb2tm1Doe/Tgfb2tm1Doe
Genetic
Background
involves: 129P2/OlaHsd * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• live-born homozygotes respond to mechanical stimulation but generally die within minutes with respiratory distress (J:41682)
• homozygotes fail to survive beyond 2 hrs due to impaired cardiovascular function (J:73681)
• two-thirds of homozygotes die shortly before or during birth and the remaining are born cyanotic

cardiovascular system
• 1 of 24 (4.2%) of homozygotes display a hypoplastic pulmonary artery
• overall, 33.3% of homozygotes aged E13.5 to 18.5 display structural abnormalities of the aorta or its branches
• at E11.5-E16.5, increased apoptosis is noted in aortic segments deriving from the fourth arch
• 2 of 24 (8.3%) of homozygotes display an aberrant right subclavian artery
• 5 of 24 (20.8%) of homozygotes exhibit hypoplasia of the aortic arch and/or ascending aorta
• 2 of 24 (8.3%) of homozygotes exhibit interruption of the aortic arch
• 1 of 24 (4.2%) of homozygotes with a common arterial trunk display interruption of the aortic arch type B
• at E18.5, homozygotes exhibit a small, thin-walled, hypoplastic ascending aorta (J:41682)
• 5 of 24 (20.8%) of homozygotes exhibit hypoplasia of the aortic arch and/or ascending aorta (J:103391)
• at E18.5, the mutant myocardium is hypercellular and less trabeculated (J:41682)
• at E18.5, some homozygotes display normal myocardialization of outflow tract cushions; others exhibit absence of myocardialization, with only a small fibrous ridge below the semilunar valves (J:103391)
• overall, 87.5% (21 of 24) homozygous mutant embryos aged E13.5 to 18.5 display abnormalities of the heart and great vessels
• 1 of 24 (4.2%) of homozygotes display a remnant of the right dorsal aorta
• at E11.5-E16.5, homozygotes display increased apoptosis in the outflow tract relative to wild-type embryos; apoptosis occurs 1 day later (E14.5), and decreases more slowly than normal
• 1 of 24 (4.2%) of homozygotes display a common arterial trunk with interruption of the aortic arch type B
• at E13.5, homozygotes exhibit a normal endocardial cushion volume; however, the normal decrease in total endocardial cushion volume observed in older (E15.5) wild-type embryos does not occur
• in some cases, fusion of the proximal cushions is incomplete
• incomplete fusion of the endocardial cushions results in a small membranous VSD
• an extensive perimembranous inlet VSD is seen in cases in which outflow tract and AV cushions do not meet
• homozygotes display various degrees of failure of normal remodeling of the primitive heart e.g. overriding tricuspid valve and DORV interfering with final phase of cardiac looping and wedging
• at E18.5, 3 of 16 homozygotes exhibit DORV (J:41682)
• 79.2% (19 of 24) of homozygotes exhibit a DORV with different relative positions of the arterial orifices, i.e. posterior (13 of 19), side-by-side (3 of 19), or slightly anterior (3 of 19) to the pulmonary orifice (J:103391)
• all mutant hearts with DORV display a bilateral muscular conus (J:103391)
• at E18.5, both tricuspid and mitral valve are abnormally connected to the left ventricle (J:41682)
• 8 of 24 (33.3%) of homozygotes display AV valve thickening (J:103391)
• 3 of 24 (12.5%) of homozygotes with tricuspid valve thickening show additional thickening of the mitral valve
• 8 of 24 (33.3%) of homozygotes display thickening of tricuspid valve thickening, with additional thickening of the mitral valve in 3 cases
• at E18.5, 4 of 16 homozygotes exhibit DILV
• at E13.5 to E18.5, homozygotes show a variable degree of hypoplasia of tissues deriving from the outflow tract ridges and the septal parts of the AV cushions
• at E18.5, 1 of 24 (4.2%) of homozygotes display a large primum-type of atrial septal defect; the lower rim of atrial septum is still mesenchymal and has not fused with AV cushions
• overall, 62.5% (15 of 24) of homozygotes aged E13.5 to 18.5 display defects related to the region of the AV canal and the ventricular inlet segment
• 1 of 24 (4.2%) of homozygotes display a complete atrioventricular septal defect
• 6 of 24 (25%) of homozygotes display overriding of tricuspid orifice via a perimembranous inlet VSD
• at E18.5, 15 of 16 homozygotes show ventricular septum defects (J:41682)
• 9 of 24 (37.5%) of homozygotes aged E13.5 to E18.5 show a perimembranous inlet VSD associated with overriding of the tricuspid orifice in 6 cases (J:103391)
• VSD is more closely related to the aortic orifice in cases with a posterior position of the latter (J:103391)
• in case of a deficient outflow tract septum, the VSD is committed to both arterial orifices (J:103391)
• at E18.5, the aortic and pulmonary orifices are both above the right ventricle; both exhibit valve leaflets that are patent (J:41682)
• 1 of 24 (4.2%) of homozygotes show thickening of the semilunar valve leaflets (J:103391)
• in contrast to septal hypoplasia, E18.5 homozygotes show abnormalities of AV and semilunar valve differentiation
• mutant valve leaflets are hyperplastic and retain a thick and cushion-like appearance
• right-sided valves (tricuspid and pulmonary) are more frequently affected than left-sided valves (mitral and aortic)
• at E18.5, homozygotes exhibit an enlarged right ventricle (J:41682)
• at E15.5, the myocardium of the right ventricle appears spongier, probably due to ventricular dilatation (J:103391)
• dextroposition of the outflow tract results in a large-outlet VSD due to aberrant position of the outflow tract septum relative to the ventricular septum
• 1 of 24 (4.2%) of homozygotes show thickening of the aortic valve leaflets
• 2 of 24 (8.3%) of homozygotes show thickening of the leaflets of the pulmonary valve, with thickening of the aortic valve in one case

hearing/vestibular/ear
• at E18.5, all homozygotes show incomplete canalization of the scala vestibuli
• a wider space between the epithelial ridge and basilar membrane is observed
• the interdental cells overlying the spiral limbus appear undifferentiated
• unlike wild-type mice, all homozygotes fail to form the spiral limbus in the basal cochlear turn by E18.5

homeostasis/metabolism
• one-third of homozygotes that are born live exhibit congenital cyanosis

endocrine/exocrine glands
• at E18.5, 1 of 5 female homozygotes shows adrenal ectopia
• at E18.5, 1 of 5 males displays unilateral testicular hypoplasia with absence of an epididymis and vas deferens dysgenesis
• at E18.5, all male homozygotes exhibit testicular ectopia

immune system
• at E13.5 or later, homozygotes exhibit failure of macrophage invasion into ocular tissues, suggesting impaired removal of vitreous hyaline cells

reproductive system
• at E18.5, 1 of 5 males displays unilateral testicular hypoplasia with absence of an epididymis and vas deferens dysgenesis
• at E18.5, all male homozygotes exhibit testicular ectopia
• at E18.5, 2 of 5 female homozygotes display uterine horn ectopia by ventral displacement relative to the kidneys

respiratory system
• postnatally, all mutant lungs exhibit dilated conducting airways
• postnatally, all mutant lungs display collapsed terminal and respiratory bronchioles
• live-born homozygotes exhibit respiratory distress

skeleton
• at E18.5, all homozygotes exhibit reduced cranial ossification of the frontal, interparietal, parietal and squamosal bones
• at E18.5, most homozygotes display dysmorphic calvaria
• at E18.5, all homozygotes display enlarged fontanelles
• at E18.5, all homozygotes exhibit reduced frontal bones
• at E18.5, all homozygotes exhibit reduced interparietal bones
• at E18.5, all homozygotes show a nearly complete agenesis of the occipital bone
• at E18.5, all homozygotes exhibit reduced parietal bones
• at E18.5, all homozygotes show a nearly complete agenesis of the alisphenoid bone
• at E18.5, homozygotes with cleft palate (23%) show absence of the pterygoid process of the basisphenoid bone
• at E18.5, all homozygotes exhibit reduced temporal bones
• at E18.5, the masseteric ridge is more prominent and anteriorly and dorsally displaced
• at E18.5, all mutant mandibles lack an angle
• at E18.5, the condyloid process is reduced to one-half of wild-type size
• at E18.5, the coronoid process is reduced to one-half of wild-type size
• at E18.5, homozygotes with cleft palate (23%) show absence of the palatine shelf
• at E18.5, most homozygotes display retrognathia
• newborn homozygotes exhibit spina bifida occulta
• mutant neural arches form but fail to fuse at the midline of the neural tube
• typically, neural arch defects range from the 10th thoracic to the 5th caudal vertebra
• all newborn homozygotes lack the deltoid tuberosity on the humerus
• all newborn homozygotes exhibit a shortened radius
• all newborn homozygotes exhibit a shortened ulna with a reduced olecranon process
• all newborn homozygotes exhibit a shortened ulna with a reduced olecranon process
• all newborn homozygotes lack the third trochanter on the femur
• at E18.5, homozygotes show ventral curvature of the clavicles
• at E18.5, 4 of 16 homozygotes display sternum abnormalities, including bifurcation, incomplete manubrium, and vestigial xiphoid process
• at E18.5, 4 of 16 homozygotes display a vestigial xiphoid process
• one-third of homozygotes exhibit wavy irregular ribs or fused ribs
• at E18.5, 2 of 16 homozygotes display rib fusions
• at E18.5, 15 of 16 homozygotes exhibit rib barreling, resulting in a larger, more rounded pulmonary cavity

vision/eye
• at E18.5, the mutant iris stroma is underdeveloped
• at E14.5, a Descemet's membrane fails to form
• at E13.5-E14.5, the mutant cornea is abnormally thin
• at E18.5, all homozygotes display reduced corneal stroma thickness (~33% of wild-type) (J:41682)
• at E13.5-E14.5, the mutant corneal stroma is significantly thinner with fewer keratocytes than wild-type stroma (J:73681)
• intercellular spacing is reduced due to decreased ECM accumulation (collagen I, lumican, and keratocan) rather than impaired keratocyte proliferation or enhanced keratocyte apoptosis (J:73681)
• at E14.5, no endothelium forms in cornea, limbus and trabecular meshworks
• in contrast, corneal epithelium morphology appears unaffected
• at E14.5-E18.5, the central stroma adheres to the lens capsule
• at E18.5, reduced collagenous matrix accumulation is noted in the extracellular space between stromal keratocytes
• at E18.5, cells at the posterior stroma fail to form a continuous endothelial cell layer
• no intercellular junctional complex or basal lamella-like structure is observed in the posterior cornea
• at E13.5-E14.5, the mutant cornea fails to separate from the lens
• at E14.5, an anterior chamber fails to form
• at E18.5, all homozygotes contain a hypercellular infusion of vascularized melanocytes, neuronal cells, and mesenchymal cells in the posterior eye chamber
• at E18.5, remnant capillaries are found between the stroma and lens capsule
• the mutant neural retina fails to laminate and undergo normal differentiation by E18.5
• at E18.5, all homozygotes show hyperplasia of both the inner and outer neuroblastic layers of the retina
• at E18.5, a huge cell mass of hyalocytes and blood cells accumulates in the vitreous

nervous system
• newborn homozygotes exhibit spina bifida occulta
• mutant neural arches form but fail to fuse at the midline of the neural tube
• typically, neural arch defects range from the 10th thoracic to the 5th caudal vertebra
• at E18.5, the mutant spiral ganglion abnormally lies close to the sensory epithelium due to absence of the spiral limbus and Rosenthal's canal

muscle
• at E18.5, the mutant myocardium is hypercellular and less trabeculated (J:41682)
• at E18.5, some homozygotes display normal myocardialization of outflow tract cushions; others exhibit absence of myocardialization, with only a small fibrous ridge below the semilunar valves (J:103391)

limbs/digits/tail
• newborn homozygotes display limb laxity; both fore- and hindlimbs are rotated and extend toward the midline
• all newborn homozygotes lack the deltoid tuberosity on the humerus
• all newborn homozygotes exhibit a shortened radius
• all newborn homozygotes exhibit a shortened ulna with a reduced olecranon process
• all newborn homozygotes exhibit a shortened ulna with a reduced olecranon process
• all newborn homozygotes lack the third trochanter on the femur

growth/size/body
• at E18.5, homozygotes with cleft palate (23%) show absence of the palatine shelf
• at E18.5, 23% of homozygotes display an extensive anteroposterior cleft of the secondary palate, leaving the nasal septa exposed and extending into the soft palate
• no primary palate cleft or cleft lip was ever observed
• observed at day E18.5, mice show a failure of the palatal shelves to elevate into a horizontal orientation for the process of apposition and fusion
• E18.5 homozygotes delivered by Cesarean section show a 12% reduction in birth weight

craniofacial
• at E18.5, all homozygotes exhibit reduced cranial ossification of the frontal, interparietal, parietal and squamosal bones
• at E18.5, most homozygotes display dysmorphic calvaria
• at E18.5, all homozygotes display enlarged fontanelles
• at E18.5, all homozygotes exhibit reduced frontal bones
• at E18.5, all homozygotes exhibit reduced interparietal bones
• at E18.5, all homozygotes show a nearly complete agenesis of the occipital bone
• at E18.5, all homozygotes exhibit reduced parietal bones
• at E18.5, all homozygotes show a nearly complete agenesis of the alisphenoid bone
• at E18.5, homozygotes with cleft palate (23%) show absence of the pterygoid process of the basisphenoid bone
• at E18.5, all homozygotes exhibit reduced temporal bones
• at E18.5, the masseteric ridge is more prominent and anteriorly and dorsally displaced
• at E18.5, all mutant mandibles lack an angle
• at E18.5, the condyloid process is reduced to one-half of wild-type size
• at E18.5, the coronoid process is reduced to one-half of wild-type size
• at E18.5, homozygotes with cleft palate (23%) show absence of the palatine shelf
• at E18.5, most homozygotes display retrognathia
• at E18.5, 23% of homozygotes display an extensive anteroposterior cleft of the secondary palate, leaving the nasal septa exposed and extending into the soft palate
• no primary palate cleft or cleft lip was ever observed
• observed at day E18.5, mice show a failure of the palatal shelves to elevate into a horizontal orientation for the process of apposition and fusion

renal/urinary system
• following tubulogenesis, female homozygotes show renal dysplastic changes, including renal tubule dilatation, degeneration of the tubular epithelium, proteinuria, and enlargement of the renal pelvis
• when kidneys form in females, tubulogenesis is followed by degeneration of the tubular epithelium
• at E18.5, 3 of 10 homozygotes show a dilated renal pelvis
• when kidneys form in females, tubulogenesis is followed by progressive tubule dilatation
• at E18.5, 1 of 5 homozygotes (females only) shows renal agenesis

digestive/alimentary system
• at E18.5, homozygotes with cleft palate (23%) show absence of the palatine shelf
• at E18.5, 23% of homozygotes display an extensive anteroposterior cleft of the secondary palate, leaving the nasal septa exposed and extending into the soft palate
• no primary palate cleft or cleft lip was ever observed
• observed at day E18.5, mice show a failure of the palatal shelves to elevate into a horizontal orientation for the process of apposition and fusion

embryo
• newborn homozygotes exhibit spina bifida occulta
• mutant neural arches form but fail to fuse at the midline of the neural tube
• typically, neural arch defects range from the 10th thoracic to the 5th caudal vertebra

hematopoietic system
• at E13.5 or later, homozygotes exhibit failure of macrophage invasion into ocular tissues, suggesting impaired removal of vitreous hyaline cells




Genotype
MGI:3848993
hm3
Allelic
Composition
Tgfb2tm1Doe/Tgfb2tm1Doe
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• by E13.5 mice display increased cell density in the primary vitreous
• at E18.5 and P0 mice display primary vitreous hyperplasia




Genotype
MGI:5008270
ht4
Allelic
Composition
Tgfb2tm1Doe/Tgfb2+
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• mice exhibit reduced enterocyte apoptosis in the small intestine compared with wild-type mice
• however, enterocyte apoptosis in the colon is normal
• villus length is increased compared to in wild-type mice

cellular
• mice exhibit reduced enterocyte apoptosis in the small intestine compared with wild-type mice
• however, enterocyte apoptosis in the colon is normal




Genotype
MGI:2668214
ht5
Allelic
Composition
Tgfb2tm1Doe/Tgfb2+
Genetic
Background
involves: 129P2/OlaHsd * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• heterozygores are viable and fertile; however, some male heterozygotes develop palpable cysts in the perineal/scrotal region (9 cysts in 21 males; 1-2 cysts per animal)
• young (2-4-mo-old) males have small, externally non-visible cysts
• older (>7-mo-old) males exhibit large, fluid-filled cysts located deep to the pelvic floor, dorso-laterally of the ischiocavernosus and bulbocavernosus muscles (Cowper's syringoceles), suggesting impaired epithelial-stromal interactions
• the cellular lining of the cyst wall exhibits heterogeneity of the epithelial lining ranging from single layered squamous epithelium to multilayered glandular structures covering papillary folds
• severely hyperplastic cells from the cyst wall exhibit extreme overload of polymorphic secretory material; stratified epithelium from the cyst wall is devoid of any signs of secretion

cellular
• male heterozygotes display malformed spermatozoa

endocrine/exocrine glands
• adult male heterozygotes exhibit Cowper's gland hyperplasia, local atrophy, ductal transformation and cystic dilation
• heterozygores are viable and fertile; however, some male heterozygotes develop palpable cysts in the perineal/scrotal region (9 cysts in 21 males; 1-2 cysts per animal)
• young (2-4-mo-old) males have small, externally non-visible cysts
• older (>7-mo-old) males exhibit large, fluid-filled cysts located deep to the pelvic floor, dorso-laterally of the ischiocavernosus and bulbocavernosus muscles (Cowper's syringoceles), suggesting impaired epithelial-stromal interactions
• the cellular lining of the cyst wall exhibits heterogeneity of the epithelial lining ranging from single layered squamous epithelium to multilayered glandular structures covering papillary folds
• severely hyperplastic cells from the cyst wall exhibit extreme overload of polymorphic secretory material; stratified epithelium from the cyst wall is devoid of any signs of secretion
• adult male heterozygotes exhibit glandular hyperplasia of Cowper's gland with thickening of the surrounding muscular capsule
• the hyperplastic glandular epithelium is multilayered with large foamy or vacuolated cells and irregular nuclear structure and position
• male heterozygotes exhibit coagulating gland hyperplasia
• hyperplastic Cowper's glands exhibit an ~80% reduction in apoptotic cell death relative to wild-type glands

reproductive system
• adult male heterozygotes exhibit Cowper's gland hyperplasia, local atrophy, ductal transformation and cystic dilation
• heterozygores are viable and fertile; however, some male heterozygotes develop palpable cysts in the perineal/scrotal region (9 cysts in 21 males; 1-2 cysts per animal)
• young (2-4-mo-old) males have small, externally non-visible cysts
• older (>7-mo-old) males exhibit large, fluid-filled cysts located deep to the pelvic floor, dorso-laterally of the ischiocavernosus and bulbocavernosus muscles (Cowper's syringoceles), suggesting impaired epithelial-stromal interactions
• the cellular lining of the cyst wall exhibits heterogeneity of the epithelial lining ranging from single layered squamous epithelium to multilayered glandular structures covering papillary folds
• severely hyperplastic cells from the cyst wall exhibit extreme overload of polymorphic secretory material; stratified epithelium from the cyst wall is devoid of any signs of secretion
• adult male heterozygotes exhibit glandular hyperplasia of Cowper's gland with thickening of the surrounding muscular capsule
• the hyperplastic glandular epithelium is multilayered with large foamy or vacuolated cells and irregular nuclear structure and position
• male heterozygotes exhibit coagulating gland hyperplasia
• hyperplastic Cowper's glands exhibit an ~80% reduction in apoptotic cell death relative to wild-type glands
• male heterozygotes show a reduced yield of spermatogenesis
• male heterozygotes display malformed spermatozoa




Genotype
MGI:3758329
ht6
Allelic
Composition
Tgfb2tm1Doe/Tgfb2+
Genetic
Background
involves: 129/Sv * 129P2/OlaHsd * Black Swiss * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• heterozygotes have 12% fewer dopaminergic neurons than wild-type littermates at 6 weeks of age; no further reduction is seen at 6 months of age

homeostasis/metabolism
• in aged (6-month old) mice, dopamine levels are only 70% of wild-type levels in the striatum; at 6 months, the dihydroxyphenyacetic acid/dopamine ratio (DOPAC/dopamine) is significantly increased relative to wild-type




Genotype
MGI:5444484
ht7
Allelic
Composition
Tgfb2tm1Doe/Tgfb2+
Genetic
Background
STOCK Tgfb2tm1Doe/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• elastic fiber fragmentation and greater collagen deposition within the medial compartment of the aortic wall is increased compared to wild-type mice
• by 8 months of age, heterozygotes show dilation of the aortic annulus and root
• however, dimensions of the more distal ascending aorta are normal
• aortic root aneurysm

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Loeys-Dietz syndrome DOID:0050466 J:188799




Genotype
MGI:4360749
cn8
Allelic
Composition
Ext1tm1Yama/Ext1+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Tgfb2tm1Doe/Tgfb2+
Genetic
Background
B6.Cg-Tgfb2tm1Doe H2az2Tg(Wnt1-cre)11Rth Ext1tm1Yama
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Yama mutation (0 available); any Ext1 mutation (47 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (25 available)
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Thin cornea and iridocorneal dysgenesis in Ext1tm1Yama/Ext1+ H2az2Tg(Wnt1-cre)11Rth/0 Tgfb2tm1Doe/Tgfb2+ mice

mortality/aging
N
• mice survive into adulthood

vision/eye
• mice exhibit defects in components of the aqueous drainage system
• however, the iridocorneal angle is normal
• the trabecular beam contains fewer cells than in wild-type mice
• mice exhibit ocular hypertension unlike single heterozygotes




Genotype
MGI:5008266
cx9
Allelic
Composition
Tgfb2tm1Doe/Tgfb2tm1Doe
Tgfb3tm1Doe/Tgfb3tm1Doe
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
Tgfb3tm1Doe mutation (1 available); any Tgfb3 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• retinal cell death is reduced compared to in wild-type mice
• cornea appear to exfoliate unlike in wild-type mice
• mice exhibit vascularized accumulation of cells in the posterior chamber of the eye unlike in wild-type mice
• lens epithelium thickness is decreased compared to in wild-type mice
• mice exhibit thickened neural retina compared with wild-type mice
• the neural retina is consistently detached from the pigment epithelium unlike in wild-type mice
• however, the outer retina and optic fiber layers are of normal thickness

limbs/digits/tail
• at E15.5
• at E13.5 and E14.5, mice lack mesenchymal indentation between future digits unlike wild-type mice
• at E13.5 and E14.5, mice exhibit decreased apoptosis in the interdigital zone compared to in wild-type mice

skeleton
• at E15.5, chondrogenesis in the digits is accelerated compared to in wild-type mice
• large hypertrophied chondrocytes with huge nuclei

cellular
• at E13.5 and E14.5, mice exhibit decreased apoptosis in the interdigital zone compared to in wild-type mice
• retinal cell death is reduced compared to in wild-type mice




Genotype
MGI:5008267
cx10
Allelic
Composition
Tgfb2tm1Doe/Tgfb2tm1Doe
Tgfb3tm1Doe/Tgfb3+
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
Tgfb3tm1Doe mutation (1 available); any Tgfb3 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• retinal cell death is reduced compared to in wild-type mice
• with detached areas
• mice exhibit vascularized accumulation of cells in the posterior chamber of the eye unlike in wild-type mice
• lens epithelium thickness is decreased compared to in wild-type mice
• mice exhibit thickened neural retina compared with wild-type mice
• the neural retina is consistently detached from the pigment epithelium unlike in wild-type mice
• however, the outer retina and optic fiber layers are of normal thickness

limbs/digits/tail
• at E13.5, mice exhibit decreased apoptosis in the interdigital zone compared to in wild-type mice
• at E15.5

skeleton
• at E15.5, chondrogenesis in the digits is accelerated compared to in wild-type mice

cellular
• at E13.5, mice exhibit decreased apoptosis in the interdigital zone compared to in wild-type mice
• retinal cell death is reduced compared to in wild-type mice




Genotype
MGI:5008265
cx11
Allelic
Composition
Tgfb2tm1Doe/Tgfb2+
Tgfb3tm1Doe/Tgfb3tm1Doe
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
Tgfb3tm1Doe mutation (1 available); any Tgfb3 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
N
• mice exhibit normal apoptosis of interdigital webbing

vision/eye
N
• mice exhibit normal retinal morphology




Genotype
MGI:5008269
cx12
Allelic
Composition
Tgfb2tm1Doe/Tgfb2+
Tgfb3tm1Doe/Tgfb3+
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
Tgfb3tm1Doe mutation (1 available); any Tgfb3 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• mice exhibit reduced enterocyte apoptosis in the small intestine compared with wild-type mice
• however, enterocyte apoptosis in the colon is normal
• villus length is increased compared to in wild-type mice

cellular
• mice exhibit reduced enterocyte apoptosis in the small intestine compared with wild-type mice
• however, enterocyte apoptosis in the colon is normal




Genotype
MGI:5444488
cx13
Allelic
Composition
Fbn1tm1Hcd/Fbn1+
Tgfb2tm1Doe/Tgfb2+
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm1Hcd mutation (1 available); any Fbn1 mutation (110 available)
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• elastic fiber fragmentation and greater collagen deposition within the medial compartment of the aortic wall is increased compared to either single heterozygote
• mutants show an increase in aortic root dimension at 2 and 4 months of age compared to either single heterozygote
• aortic dilatation is specific to the aortic root
• aortic root aneurysm

growth/size/body
N
• mutants exhibit normal body size and growth

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Loeys-Dietz syndrome DOID:0050466 J:188799




Genotype
MGI:3848994
cx14
Allelic
Composition
Cdkn2atm1(GFP)Cjs/Cdkn2atm1(GFP)Cjs
Tgfb2tm1Doe/Tgfb2tm1Doe
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2atm1(GFP)Cjs mutation (1 available); any Cdkn2a mutation (58 available)
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye




Genotype
MGI:3848995
cx15
Allelic
Composition
Cdkn2atm1(GFP)Cjs/Cdkn2atm1(GFP)Cjs
Tgfb2tm1Doe/Tgfb2+
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2atm1(GFP)Cjs mutation (1 available); any Cdkn2a mutation (58 available)
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye




Genotype
MGI:3848999
cx16
Allelic
Composition
Cdkn2atm1Cjs/Cdkn2a+
Tgfb2tm1Doe/Tgfb2tm1Doe
Genetic
Background
involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2atm1Cjs mutation (6 available); any Cdkn2a mutation (58 available)
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye




Genotype
MGI:3848997
cx17
Allelic
Composition
Cdkn2atm1Sxs/Cdkn2a+
Tgfb2tm1Doe/Tgfb2tm1Doe
Genetic
Background
involves: 129/Sv * 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2atm1Sxs mutation (0 available); any Cdkn2a mutation (58 available)
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/17/2023
MGI 6.22
The Jackson Laboratory