All Phenotypes Tgfb3<tm1Doe> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tgfb3^tm1Doe
targeted mutation 1, Thomas Doetschman
MGI:1857259

Summary

15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tgfb3^tm1Doe/Tgfb3^tm1Doe	either: (involves: 129 * 129P2/OlaHsd) or (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CF-1)	MGI:3041530
hm2	Tgfb3^tm1Doe/Tgfb3^tm1Doe	involves: 129 * C57BL/6J * ICR * Swiss Webster	MGI:5008407
hm3	Tgfb3^tm1Doe/Tgfb3^tm1Doe	involves: 129P2/OlaHsd * C57BL/6	MGI:5008274
hm4	Tgfb3^tm1Doe/Tgfb3^tm1Doe	involves: 129P2/OlaHsd * C57BL/6J	MGI:7294492
ht5	Tgfb3^tm1Doe/Tgfb3⁺	involves: 129P2/OlaHsd	MGI:5008271
cx6	Tgfb1^tm1Jmu/Tgfb1^tm1Jmu Tgfb3^tm1Doe/Tgfb3^tm1Doe	involves: 129 * BALB/c * C57BL/6J * Swiss Webster	MGI:5008412
cx7	Tgfb1^tm1Jmu/Tgfb1^tm1Jmu Tgfb3^tm1Doe/Tgfb3⁺	involves: 129 * BALB/c * C57BL/6J * Swiss Webster	MGI:5008410
cx8	Tgfb1^tm1Jmu/Tgfb1^tm1Jmu Tgfb3^tm1Doe/Tgfb3^tm1Doe	involves: 129 * C57BL/6J * ICR * Swiss Webster	MGI:5008415
cx9	Tgfb1^tm1Jmu/Tgfb1^tm1Jmu Tgfb3^tm1Doe/Tgfb3⁺	involves: 129 * C57BL/6J * ICR * Swiss Webster	MGI:5008413
cx10	Tgfb2^tm1Doe/Tgfb2^tm1Doe Tgfb3^tm1Doe/Tgfb3⁺	involves: 129P2/OlaHsd	MGI:5008267
cx11	Tgfb2^tm1Doe/Tgfb2^tm1Doe Tgfb3^tm1Doe/Tgfb3^tm1Doe	involves: 129P2/OlaHsd	MGI:5008266
cx12	Tgfb2^tm1Doe/Tgfb2⁺ Tgfb3^tm1Doe/Tgfb3^tm1Doe	involves: 129P2/OlaHsd	MGI:5008265
cx13	Tgfb2^tm1Doe/Tgfb2⁺ Tgfb3^tm1Doe/Tgfb3⁺	involves: 129P2/OlaHsd	MGI:5008269
cx14	Tgfb1^tm1Jmu/Tgfb1^tm1Jmu Tgfb3^tm1Doe/Tgfb3⁺	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * Swiss Webster	MGI:5008408
cx15	Tgfb1^tm1Jmu/Tgfb1^tm1Jmu Tgfb3^tm1Doe/Tgfb3^tm1Doe	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * Swiss Webster	MGI:5008411

Allelic Composition	Tgfb3^tm1Doe/Tgfb3^tm1Doe
Genetic Background	either: (involves: 129 * 129P2/OlaHsd) or (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CF-1)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb3^tm1Doe mutation (1 available); any Tgfb3 mutation (34 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:29901 )

• all homozygotes die within 24 hrs after birth

• no homozygotes are recovered at 3 weeks of age, independent of genetic background

behavior/neurological

absent gastric milk in neonates ( J:29901 )

• homozygous mutant pups fail to suckle, as shown by absence of milk in their stomachs

craniofacial

persistence of medial edge epithelium during palatal shelf fusion ( J:29901 )

• failure of palatal shelves to fuse appears to result from impaired adhesion of the apposing medial edge epithelia (MEE) and subsequent loss of the mid-line epithelial seam

• when fusion did occur, the MEE seam persisted in the mutant mice

cleft palate ( J:29901 )

• newborn homozygotes show a cleft palate phenotype of variable severity and type (anterior vs posterior) that is most severe on a C57BL/6-enriched background

• no associated cleft lip or gross abnormalities in cartilage, bone, brain, heart or other craniofacial structures (e.g. mandible) are observed

• Background Sensitivity: on a 129P2/OlaHsd x C57BL/6 background, 46.7% of homozygotes exhibit a complete cleft palate while 53.3% display only a posterior cleft

• Background Sensitivity: on a 129P2/OlaHsd x CF1 background, 89.3% homozygotes show a posterior cleft palate, 8.7% show anterior clefts (i.e. failure of fusion of primary and secondary palates), and ~2% exhibit complete clefts

• Background Sensitivity: on a 129/Sv x 129P2/OlaHsd background, all homozygotes show only a posterior cleft palate

anterior cleft palate ( J:29901 )

complete cleft palate ( J:29901 )

homeostasis/metabolism

cyanosis ( J:29901 )

• newborn pups become cyanotic shortly after birth

dehydration ( J:29901 )

• newborn pups become dehydrated shortly after birth

respiratory system

abnormal respiratory conducting tube morphology ( J:29901 )

• newborn homozygotes display an abnormal terminal airway system

respiratory distress ( J:29901 )

• newborn pups exhibit gasping at ~4 hrs after birth

digestive/alimentary system

persistence of medial edge epithelium during palatal shelf fusion ( J:29901 )

• failure of palatal shelves to fuse appears to result from impaired adhesion of the apposing medial edge epithelia (MEE) and subsequent loss of the mid-line epithelial seam

• when fusion did occur, the MEE seam persisted in the mutant mice

cleft palate ( J:29901 )

• newborn homozygotes show a cleft palate phenotype of variable severity and type (anterior vs posterior) that is most severe on a C57BL/6-enriched background

• no associated cleft lip or gross abnormalities in cartilage, bone, brain, heart or other craniofacial structures (e.g. mandible) are observed

• Background Sensitivity: on a 129P2/OlaHsd x C57BL/6 background, 46.7% of homozygotes exhibit a complete cleft palate while 53.3% display only a posterior cleft

• Background Sensitivity: on a 129/Sv x 129P2/OlaHsd background, all homozygotes show only a posterior cleft palate

anterior cleft palate ( J:29901 )

complete cleft palate ( J:29901 )

growth/size/body

persistence of medial edge epithelium during palatal shelf fusion ( J:29901 )

• failure of palatal shelves to fuse appears to result from impaired adhesion of the apposing medial edge epithelia (MEE) and subsequent loss of the mid-line epithelial seam

• when fusion did occur, the MEE seam persisted in the mutant mice

cleft palate ( J:29901 )

• newborn homozygotes show a cleft palate phenotype of variable severity and type (anterior vs posterior) that is most severe on a C57BL/6-enriched background

• no associated cleft lip or gross abnormalities in cartilage, bone, brain, heart or other craniofacial structures (e.g. mandible) are observed

• Background Sensitivity: on a 129P2/OlaHsd x C57BL/6 background, 46.7% of homozygotes exhibit a complete cleft palate while 53.3% display only a posterior cleft

• Background Sensitivity: on a 129/Sv x 129P2/OlaHsd background, all homozygotes show only a posterior cleft palate

anterior cleft palate ( J:29901 )

complete cleft palate ( J:29901 )

Allelic Composition	Tgfb3^tm1Doe/Tgfb3^tm1Doe
Genetic Background	involves: 129 * C57BL/6J * ICR * Swiss Webster

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb3^tm1Doe mutation (1 available); any Tgfb3 mutation (34 available)

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

craniofacial

cleft palate ( J:136106 )

• incomplete, posterior

respiratory system

respiratory system phenotype ( J:136106 )

N	• mice exhibit normal lung morphology

digestive/alimentary system

cleft palate ( J:136106 )

• incomplete, posterior

growth/size/body

cleft palate ( J:136106 )

• incomplete, posterior

Allelic Composition	Tgfb3^tm1Doe/Tgfb3^tm1Doe
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb3^tm1Doe mutation (1 available); any Tgfb3 mutation (34 available)

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

nervous system

decreased neuron apoptosis ( J:117465 )

• 2-fold in neurons of the substantia nigra pars compacta and ventral tegmental area

loss of dopaminergic neurons ( J:117465 )

• at P0 in the substantia nigra pars compacta and ventral tegmental area

cellular

decreased neuron apoptosis ( J:117465 )

• 2-fold in neurons of the substantia nigra pars compacta and ventral tegmental area

Allelic Composition	Tgfb3^tm1Doe/Tgfb3^tm1Doe
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb3^tm1Doe mutation (1 available); any Tgfb3 mutation (34 available)

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

craniofacial

abnormal secondary palate development ( J:315539 )

• at E14.5 palates are composed of a multilayer epithelium with trapped, flattened periderm between the layers

persistence of medial edge epithelium during palatal shelf fusion ( J:315539 )

• shelves meet but form an inadequate and temporary fusion due to the trapped periderm

cleft palate ( J:315539 )

embryo

abnormal periderm development ( J:315539 )

• periderm fails to undergo desquamation and persists in the palatal shelves at E14.5

• at E14.25 palatal periderm retains intact with a spherical-cobblestone appearance, does not dislodge, and remains tethered to the basal cells

digestive/alimentary system

abnormal secondary palate development ( J:315539 )

• at E14.5 palates are composed of a multilayer epithelium with trapped, flattened periderm between the layers

persistence of medial edge epithelium during palatal shelf fusion ( J:315539 )

• shelves meet but form an inadequate and temporary fusion due to the trapped periderm

cleft palate ( J:315539 )

growth/size/body

abnormal secondary palate development ( J:315539 )

• at E14.5 palates are composed of a multilayer epithelium with trapped, flattened periderm between the layers

persistence of medial edge epithelium during palatal shelf fusion ( J:315539 )

• shelves meet but form an inadequate and temporary fusion due to the trapped periderm

cleft palate ( J:315539 )

Allelic Composition	Tgfb3^tm1Doe/Tgfb3⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb3^tm1Doe mutation (1 available); any Tgfb3 mutation (34 available)

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

digestive/alimentary system

decreased enterocyte apoptosis ( J:76342 )

• mice exhibit reduced enterocyte apoptosis in the small intestine compared with wild-type mice

• however, enterocyte apoptosis in the colon is normal

abnormal small intestinal villus morphology ( J:76342 )

• villus length is increased compared to in wild-type mice

cellular

decreased enterocyte apoptosis ( J:76342 )

• mice exhibit reduced enterocyte apoptosis in the small intestine compared with wild-type mice

• however, enterocyte apoptosis in the colon is normal

Allelic Composition	Tgfb1^tm1Jmu/Tgfb1^tm1Jmu Tgfb3^tm1Doe/Tgfb3^tm1Doe
Genetic Background	involves: 129 * BALB/c * C57BL/6J * Swiss Webster

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb1^tm1Jmu mutation (0 available); any Tgfb1 mutation (34 available)
Tgfb3^tm1Doe mutation (1 available); any Tgfb3 mutation (34 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:136106 )

• very few mice are born

• Background Sensitivity: fewer mice are born than on a background lacking BALB/c or containing ICR

cardiovascular system

intracranial hemorrhage ( J:136106 )

• in all mice

nervous system

intracranial hemorrhage ( J:136106 )

• in all mice

Allelic Composition	Tgfb1^tm1Jmu/Tgfb1^tm1Jmu Tgfb3^tm1Doe/Tgfb3⁺
Genetic Background	involves: 129 * BALB/c * C57BL/6J * Swiss Webster

Find Mice

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:136106 )

• most mice only survive 3 weeks before dying of widespread inflammation

cardiovascular system

intracranial hemorrhage ( J:136106 )

• rarely

nervous system

intracranial hemorrhage ( J:136106 )

• rarely

Allelic Composition	Tgfb1^tm1Jmu/Tgfb1^tm1Jmu Tgfb3^tm1Doe/Tgfb3^tm1Doe
Genetic Background	involves: 129 * C57BL/6J * ICR * Swiss Webster

Find Mice

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

mortality/aging

mortality/aging ( J:136106 )

N	• Background Sensitivity: more mice are born on a background containing ICR than on a background containing BALB/c or lacking both ICR and BALB/c

neonatal lethality, complete penetrance ( J:136106 )

• all mice die within hours of birth

nervous system

abnormal brain vasculature morphology ( J:136106 )

• as early as E11.5

• at E13.5, brain vasculature exhibits extensive cavitation compared to in control mice

• in newborn mice, brain vessels are enlarged and hyperplastic compared to in control mice

intracranial hemorrhage ( J:136106 )

• in all mice

• as early as E11.5

• severe by E15.5

hydrocephaly ( J:136106 )

• associated with brain hemorrhage

enlarged brain ventricles ( J:136106 )

• enlarged ventricles

cardiovascular system

abnormal brain vasculature morphology ( J:136106 )

• as early as E11.5

• at E13.5, brain vasculature exhibits extensive cavitation compared to in control mice

• in newborn mice, brain vessels are enlarged and hyperplastic compared to in control mice

intracranial hemorrhage ( J:136106 )

• as early as E11.5

• severe by E15.5

• in all mice

craniofacial

cleft secondary palate ( J:136106 )

• more extensive complete cleft of the secondary palate compared to in Tgfb3^tm1Doe homozygotes on the same background

respiratory system

respiratory system phenotype ( J:136106 )

N	• mice exhibit normal lung morphology

digestive/alimentary system

cleft secondary palate ( J:136106 )

• more extensive complete cleft of the secondary palate compared to in Tgfb3^tm1Doe homozygotes on the same background

growth/size/body

cleft secondary palate ( J:136106 )

• more extensive complete cleft of the secondary palate compared to in Tgfb3^tm1Doe homozygotes on the same background

Allelic Composition	Tgfb1^tm1Jmu/Tgfb1^tm1Jmu Tgfb3^tm1Doe/Tgfb3⁺
Genetic Background	involves: 129 * C57BL/6J * ICR * Swiss Webster

Find Mice

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:136106 )

• most mice only survive 3 weeks before dying of widespread inflammation

cardiovascular system

abnormal brain vasculature morphology ( J:136106 )

• in newborn mice, brain vasculature exhibits cavitation compared to in control mice

intracranial hemorrhage ( J:136106 )

• in all newborn mice

• less severe than in double homozygotes

nervous system

abnormal brain vasculature morphology ( J:136106 )

• in newborn mice, brain vasculature exhibits cavitation compared to in control mice

intracranial hemorrhage ( J:136106 )

• in all newborn mice

• less severe than in double homozygotes

hydrocephaly ( J:136106 )

• in newborn mice

Allelic Composition	Tgfb2^tm1Doe/Tgfb2^tm1Doe Tgfb3^tm1Doe/Tgfb3⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfb2^tm1Doe mutation (2 available); any Tgfb2 mutation (33 available)
Tgfb3^tm1Doe mutation (1 available); any Tgfb3 mutation (34 available)

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

vision/eye

decreased retina apoptosis ( J:105113 )

• retinal cell death is reduced compared to in wild-type mice

abnormal cornea morphology ( J:105113 )

• with detached areas

decreased corneal stroma thickness ( J:105113 )

abnormal eye posterior chamber morphology ( J:105113 )

• mice exhibit vascularized accumulation of cells in the posterior chamber of the eye unlike in wild-type mice

abnormal lens epithelium morphology ( J:105113 )

• lens epithelium thickness is decreased compared to in wild-type mice

abnormal retina neuronal layer morphology ( J:105113 )

• 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

abnormal retina inner nuclear layer morphology ( J:105113 )

• thickened

limbs/digits/tail

abnormal interdigital cell death ( J:76541 )

• at E13.5, mice exhibit decreased apoptosis in the interdigital zone compared to in wild-type mice

interdigital webbing ( J:76541 )

• at E15.5

skeleton

abnormal cartilage development ( J:76541 )

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

cellular

abnormal interdigital cell death ( J:76541 )

• at E13.5, mice exhibit decreased apoptosis in the interdigital zone compared to in wild-type mice

decreased retina apoptosis ( J:105113 )

• retinal cell death is reduced compared to in wild-type mice

Allelic Composition	Tgfb2^tm1Doe/Tgfb2^tm1Doe Tgfb3^tm1Doe/Tgfb3^tm1Doe
Genetic Background	involves: 129P2/OlaHsd

Find Mice

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

vision/eye

abnormal retina apoptosis ( J:105113 )

• retinal cell death is reduced compared to in wild-type mice

abnormal cornea morphology ( J:105113 )

• cornea appear to exfoliate unlike in wild-type mice

decreased cornea thickness ( J:105113 )

decreased corneal stroma thickness ( J:105113 )

abnormal eye posterior chamber morphology ( J:105113 )

• mice exhibit vascularized accumulation of cells in the posterior chamber of the eye unlike in wild-type mice

abnormal lens epithelium morphology ( J:105113 )

• lens epithelium thickness is decreased compared to in wild-type mice

abnormal retina neuronal layer morphology ( J:105113 )

• 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

abnormal retina inner nuclear layer morphology ( J:105113 )

• thickened

limbs/digits/tail

interdigital webbing ( J:76541 )

• at E15.5

abnormal digit development ( J:76541 )

• at E13.5 and E14.5, mice lack mesenchymal indentation between future digits unlike wild-type mice

abnormal interdigital cell death ( J:76541 )

• at E13.5 and E14.5, mice exhibit decreased apoptosis in the interdigital zone compared to in wild-type mice

skeleton

abnormal cartilage development ( J:76541 )

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

abnormal chondrocyte morphology ( J:76541 )

• large hypertrophied chondrocytes with huge nuclei

cellular

abnormal interdigital cell death ( J:76541 )

• at E13.5 and E14.5, mice exhibit decreased apoptosis in the interdigital zone compared to in wild-type mice

abnormal retina apoptosis ( J:105113 )

• retinal cell death is reduced compared to in wild-type mice

Allelic Composition	Tgfb2^tm1Doe/Tgfb2⁺ Tgfb3^tm1Doe/Tgfb3^tm1Doe
Genetic Background	involves: 129P2/OlaHsd

Find Mice

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

limbs/digits/tail

limbs/digits/tail phenotype ( J:76541 )

N	• mice exhibit normal apoptosis of interdigital webbing

vision/eye

vision/eye phenotype ( J:105113 )

N	• mice exhibit normal retinal morphology

Allelic Composition	Tgfb2^tm1Doe/Tgfb2⁺ Tgfb3^tm1Doe/Tgfb3⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

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

digestive/alimentary system

decreased enterocyte apoptosis ( J:76342 )

• mice exhibit reduced enterocyte apoptosis in the small intestine compared with wild-type mice

• however, enterocyte apoptosis in the colon is normal

abnormal small intestinal villus morphology ( J:76342 )

• villus length is increased compared to in wild-type mice

cellular

decreased enterocyte apoptosis ( J:76342 )

• mice exhibit reduced enterocyte apoptosis in the small intestine compared with wild-type mice

• however, enterocyte apoptosis in the colon is normal

Allelic Composition	Tgfb1^tm1Jmu/Tgfb1^tm1Jmu Tgfb3^tm1Doe/Tgfb3⁺
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * Swiss Webster

Find Mice

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:136106 )

• most mice only survive 3 weeks before dying of widespread inflammation

embryonic lethality during organogenesis, incomplete penetrance ( J:136106 )

• most mice die between E8.5 and E12.5

cardiovascular system

absent vitelline blood vessels ( J:136106 )

• in non-viable mice

intracranial hemorrhage ( J:136106 )

• rarely

embryo

absent vitelline blood vessels ( J:136106 )

• in non-viable mice

nervous system

intracranial hemorrhage ( J:136106 )

• rarely

Allelic Composition	Tgfb1^tm1Jmu/Tgfb1^tm1Jmu Tgfb3^tm1Doe/Tgfb3^tm1Doe
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * Swiss Webster

Find Mice

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:136106 )

• most mice die between E8.5 and E12.5

prenatal lethality, incomplete penetrance ( J:136106 )

• very few mice are born

• Background Sensitivity: more mice are born than on a background lacking BALB/c, but fewer mice are born than on a background containing ICR

cardiovascular system

absent vitelline blood vessels ( J:136106 )

• in non-viable mice

intracranial hemorrhage ( J:136106 )

• in all mice

embryo

absent vitelline blood vessels ( J:136106 )

• in non-viable mice

nervous system

intracranial hemorrhage ( J:136106 )

• in all mice

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