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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tgfbr1+
wild type
MGI:2432215
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Tgfbr1tm1.1Hcd/Tgfbr1+ 129S6(Cg)-Tgfbr1tm1.1Hcd MGI:5543898
ht2
 		Tgfbr1R244Q/Tgfbr1+ either: (involves: C57BL/6) or (involves: BALB/c * C57BL/6) MGI:5285668
cx3
 		ApcMin/Apc+
Tgfbr1tm1Bopa/Tgfbr1+ 		B6.Cg-Tgfbr1tm1Bopa ApcMin MGI:3831112
cx4
 		Tg(Ela-KRAS*G12D)9Eps/0
Tgfbr1tm1Bopa/Tgfbr1+ 		involves: 129S1/SvImJ * C57BL/6 * FVB MGI:5806470
cx5
 		Tg(Ela-KRAS*G12D)9Eps/0
Tgfbr1tm1Bopa/Tgfbr1+
Tg(Mt1-TGFBR2*)AM3Epb/0 		involves: 129S1/SvImJ * C57BL/6 * FVB MGI:5806471
cx6
 		ApcMin/Apc+
Tgfbr1tm1Bopa/Tgfbr1+ 		involves: 129S1/SvImJ * C57BL/6J MGI:3831111


Genotype
MGI:5543898
ht1
Allelic
Composition		 Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic
Background		 129S6(Cg)-Tgfbr1tm1.1Hcd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfbr1tm1.1Hcd mutation (1 available); any Tgfbr1 mutation (32 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal aorta elastic fiber morphology ( J:204960 )
• elastic fiber fragmentation is observed in aortic roots by 24 weeks of age
increased aorta wall thickness ( J:204960 )
• progressive thickening of aortic wall with excessive collagen deposition
abnormal aortic arch morphology ( J:204960 )
• elongation and tortuosity is found in the aortic arch and coronary arteries
abnormal aorta bulb morphology ( J:204960 )
• progressive enlargement of aortic root diameter beginning at 4 weeks of age
dilated aorta bulb ( J:204960 )
• aortic root aneurysm
ascending aorta aneurysm ( J:204960 )
• aortic root aneurysm
abnormal coronary artery morphology ( J:204960 )
• elongation and tortuosity is found in the aortic arch and coronary arteries
hemopericardium ( J:204960 )
• hemothorax or hemopericardium is observable in approximately 60% of deaths
hemothorax ( J:204960 )
• hemothorax or hemopericardium is observable in approximately 60% of deaths

mortality/aging
premature death ( J:204960 )
• 85% survival by 180 days

skeleton
kyphosis ( J:204960 )
• kyphosis is observed in 24 week old mice
premature coronal suture closure ( J:204960 )
• patchy closure of coronal sutures
premature lambdoid suture closure ( J:204960 )
• patchy closure of lambdoid sutures

homeostasis/metabolism
hemopericardium ( J:204960 )
• hemothorax or hemopericardium is observable in approximately 60% of deaths

respiratory system
hemothorax ( J:204960 )
• hemothorax or hemopericardium is observable in approximately 60% of deaths

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Loeys-Dietz syndrome DOID:0050466 J:204960




Genotype
MGI:5285668
ht2
Allelic
Composition		 Tgfbr1R244Q/Tgfbr1+
Genetic
Background		 either: (involves: C57BL/6) or (involves: BALB/c * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfbr1R244Q mutation (0 available); any Tgfbr1 mutation (32 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
enhanced wound healing ( J:175236 )
• fast and regenerative wound healing in an ear hole punch test
• phenotype is more pronounced in homozygotes compared to heterozygotes

skeleton
abnormal cartilage development ( J:175236 )
• bone marrow-derived mesenchymal stromal cells display accelerated chondrogenesis




Genotype
MGI:3831112
cx3
Allelic
Composition		 ApcMin/Apc+
Tgfbr1tm1Bopa/Tgfbr1+
Genetic
Background		 B6.Cg-Tgfbr1tm1Bopa ApcMin
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
ApcMin mutation (12 available); any Apc mutation (151 available)
Tgfbr1tm1Bopa mutation (0 available); any Tgfbr1 mutation (32 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
increased gastrointestinal tumor incidence ( J:143706 )
• mice develop twice as many intestinal tumors as in ApcMin heterozygotes
• mice develop small and predominantly scattered tumors in the small intestine as well as colonic tumors
increased intestinal adenocarcinoma incidence ( J:143706 )
• 3 mice develop large, polyploidy and ulcerated colonic tumors

digestive/alimentary system
increased gastrointestinal tumor incidence ( J:143706 )
• mice develop twice as many intestinal tumors as in ApcMin heterozygotes
• mice develop small and predominantly scattered tumors in the small intestine as well as colonic tumors
increased intestinal adenocarcinoma incidence ( J:143706 )
• 3 mice develop large, polyploidy and ulcerated colonic tumors




Genotype
MGI:5806470
cx4
Allelic
Composition		 Tg(Ela-KRAS*G12D)9Eps/0
Tgfbr1tm1Bopa/Tgfbr1+
Genetic
Background		 involves: 129S1/SvImJ * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Ela-KRAS*G12D)9Eps mutation (0 available)
Tgfbr1tm1Bopa mutation (0 available); any Tgfbr1 mutation (32 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
endocrine/exocrine glands
increased pancreas tumor incidence ( J:231759 )
• only 40% of mice present with neoplastic or metaplastic pancreatic lesions
abnormal pancreas physiology ( J:231759 )
• decrease in proliferating cell nuclear antigen (PCNA) staining throughout the entire pancreas

hematopoietic system
increased CD8-positive, alpha-beta T cell number ( J:231759 )
• expansion of CD8+ population in mesenteric lymph nodes
• total T-cell infiltration near pancreatic lesions is increased, with strong CD8+ infiltration but almost completely absent CD3/pSMAD2+ and CD3/FOXP3+ cell (suppressive/anergic regulatory T lymphocytes) infiltration, indicating a cytotoxic response against pancreatic lesions

immune system
increased CD8-positive, alpha-beta T cell number ( J:231759 )
• expansion of CD8+ population in mesenteric lymph nodes
• total T-cell infiltration near pancreatic lesions is increased, with strong CD8+ infiltration but almost completely absent CD3/pSMAD2+ and CD3/FOXP3+ cell (suppressive/anergic regulatory T lymphocytes) infiltration, indicating a cytotoxic response against pancreatic lesions

neoplasm
increased pancreas tumor incidence ( J:231759 )
• only 40% of mice present with neoplastic or metaplastic pancreatic lesions




Genotype
MGI:5806471
cx5
Allelic
Composition		 Tg(Ela-KRAS*G12D)9Eps/0
Tgfbr1tm1Bopa/Tgfbr1+
Tg(Mt1-TGFBR2*)AM3Epb/0
Genetic
Background		 involves: 129S1/SvImJ * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Ela-KRAS*G12D)9Eps mutation (0 available)
Tgfbr1tm1Bopa mutation (0 available); any Tgfbr1 mutation (32 available)
Tg(Mt1-TGFBR2*)AM3Epb mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
endocrine/exocrine glands
decreased gland tumor incidence ( J:231759 )
• mice are protected against pancreatic lesion formation

neoplasm
decreased gland tumor incidence ( J:231759 )
• mice are protected against pancreatic lesion formation




Genotype
MGI:3831111
cx6
Allelic
Composition		 ApcMin/Apc+
Tgfbr1tm1Bopa/Tgfbr1+
Genetic
Background		 involves: 129S1/SvImJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
ApcMin mutation (12 available); any Apc mutation (151 available)
Tgfbr1tm1Bopa mutation (0 available); any Tgfbr1 mutation (32 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
increased gastrointestinal tumor incidence ( J:143706 )
• mice develop twice as many intestinal tumors as in ApcMin heterozygotes
• mice develop small and predominantly scattered tumors in the small intestine as well as colonic tumors
increased intestinal adenocarcinoma incidence ( J:143706 )
• 3 mice develop large, polyploidy and ulcerated colonic tumors

digestive/alimentary system
increased gastrointestinal tumor incidence ( J:143706 )
• mice develop twice as many intestinal tumors as in ApcMin heterozygotes
• mice develop small and predominantly scattered tumors in the small intestine as well as colonic tumors
increased intestinal adenocarcinoma incidence ( J:143706 )
• 3 mice develop large, polyploidy and ulcerated colonic tumors

cellular
increased cell proliferation ( J:143706 )
• mouse embryonic fibroblasts treated with TGFbeta exhibit a reduced decrease in proliferation compared to similarly treated wild-type mice
• proliferation of intestinal crypt epithelium is increased compared to in wild-type mice

hematopoietic system
hematopoietic system phenotype ( J:143706 )
N
• despite disruptions in cell proliferation, hematopoiesis is normal




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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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Send questions and comments to User Support. 		last database update
12/30/2025
MGI 6.24 		The Jackson Laboratory