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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tgfbr1tm1.1Karl
targeted mutation 1.1, Stefan Karlsson
MGI:2680164
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Tg(Tie1-cre)9Ref/0
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ) MGI:3623408
cn2
Tgfbr1tm1Karl/Tgfbr1tm1.1Karl
Tg(GATA5-cre)1Krc/0
involves: 129 MGI:4836601
cn3
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Tg(Tie1-cre)9Ref/?
Gt(ROSA)26Sortm1Sor/?
involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3767613
cn4
Ptentm1Hwu/Ptentm1Hwu
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Tg(KRT14-cre/ERT)20Efu/0
involves: 129 * 129S4/SvJae * C57BL/6 * CD-1 * FVB/N MGI:5487550
cn5
Tg(Col2a1-cre/ERT2)1Dic/0
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
involves: 129 * C57BL/6 MGI:6306137
cn6
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Tg(Mx1-cre)1Cgn/0
involves: 129 * C57BL/6 * CBA MGI:2680169
cn7
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Tg(Acvrl1-cre)L1Spo/0
involves: 129 * FVB MGI:4398919
cn8
Cd207tm2.1(cre)Bjec/Cd207+
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
involves: 129S4/SvJaeSor * C57BL/6 MGI:5308087
cn9
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
A1cfTg(Myh6-cre/Esr1*)1Jmk/A1cf+
involves: 129S/Sv * C57BL/6 * FVB/N MGI:5523277


Genotype
MGI:3623408
cn1
Allelic
Composition
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Tg(Tie1-cre)9Ref/0
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfbr1tm1.1Karl mutation (1 available); any Tgfbr1 mutation (24 available)
Tg(Tie1-cre)9Ref mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryonic lethality at mid gestation

embryo
• develop similar yolk sac defects as Tgfbr1 null mice

cardiovascular system
• develop similar yolk sac defects as Tgfbr1 null mice




Genotype
MGI:4836601
cn2
Allelic
Composition
Tgfbr1tm1Karl/Tgfbr1tm1.1Karl
Tg(GATA5-cre)1Krc/0
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfbr1tm1.1Karl mutation (1 available); any Tgfbr1 mutation (24 available)
Tgfbr1tm1Karl mutation (0 available); any Tgfbr1 mutation (24 available)
Tg(GATA5-cre)1Krc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

respiratory system
• late lung development is blocked such that lungs appear more cellular and contain immature alveoli and reduced airspace in distal lungs at E18.5 compared to wild-type
• marker analysis indicates that bronchiolar epithelial progenitor cell differentiation is impaired, however alveolar epithelial cell differentiation appears normal
• bronchiolar epithelial progenitor cell differentiation is impaired
• Clara cell numbers are reduced in E18.5 lungs
• lungs are smaller at E15.5
• distal airways are composed of highly disorganized cells
• enlarged airways in the lungs at E15.5

integument
• fail to develop ventral skin




Genotype
MGI:3767613
cn3
Allelic
Composition
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Tg(Tie1-cre)9Ref/?
Gt(ROSA)26Sortm1Sor/?
Genetic
Background
involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1Sor mutation (7 available); any Gt(ROSA)26Sor mutation (576 available)
Tgfbr1tm1.1Karl mutation (1 available); any Tgfbr1 mutation (24 available)
Tg(Tie1-cre)9Ref mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice are present at E9.5 but dead by E12.5

embryo
• mice lack networks of vessels at all stages
• at E9.5, mice appear delayed by 1 day
• yolk sacs possess greater numbers of vascular smooth muscle cells than in wild-type yolk sacs

growth/size/body
• at E9.5, mice appear delayed by 1 day

cardiovascular system
• mice lack networks of vessels at all stages
• at E9.5, hearts exhibit pericardial effusion

homeostasis/metabolism
• at E9.5, hearts exhibit pericardial effusion




Genotype
MGI:5487550
cn4
Allelic
Composition
Ptentm1Hwu/Ptentm1Hwu
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Tg(KRT14-cre/ERT)20Efu/0
Genetic
Background
involves: 129 * 129S4/SvJae * C57BL/6 * CD-1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm1Hwu mutation (15 available); any Pten mutation (49 available)
Tgfbr1tm1.1Karl mutation (1 available); any Tgfbr1 mutation (24 available)
Tg(KRT14-cre/ERT)20Efu mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl Ptentm1Hwu/Ptentm1Hwu Tg(KRT14-cre/ERT)20Efu/0 mice develop anal squamous cell carcinoma

neoplasm
• tamoxifen treated mutants to induce cre-mediated deletion of Tgfbr1 and Pten develop head and neck tumors; papillomas progress to squamous cell carcinoma in the head and neck and oral cavity (J:194652)
• treatment with rapamycin 2 weeks after tamoxifen administration delays initiation and reduces progression of papilloma and onset of squamous cell carcinoma (J:194652)
• rapamycin treatment of mice with already established head and neck squamous cell carcinoma results in regression of those tumors; rapamycin decreases cell proliferation and increases apoptosis in these tumors (J:194652)
• anal neoplasms that develop in tamoxifen treated mice originate from squamous epithelia and not from columnar epithelia, indicating squamous cell carcinoma (J:209026)
• invasion into adjacent muscle tissue is seen in some mice (J:209026)
• anal squamous cell carcinoma shows increased levels of proinflammatory cytokines (J:209026)
• all mice develop head and neck squamous cell carcinomas 16 weeks after tamoxifen induction (J:209026)
• rapamycin treatment 2 weeks after tamoxifen administration decreases cell proliferation, and delays and reduces the progression of anal squamous cell carcinoma (J:209026)
• tamoxifen treated mutants to induce cre-mediated deletion of Tgfbr1 and Pten develop head and neck and oral cavity papillomas that progress to squamous cell carcinoma
• 33% of mice develop visible anal tumors in 6 weeks after tamoxifen treatment

digestive/alimentary system
• 4 weeks after oral tamoxifen treatment for 5 consecutive days, hyperplasia is seen in the perianal areas




Genotype
MGI:6306137
cn5
Allelic
Composition
Tg(Col2a1-cre/ERT2)1Dic/0
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Col2a1-cre/ERT2)1Dic mutation (0 available)
Tgfbr1tm1.1Karl mutation (1 available); any Tgfbr1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• tamoxifen-treated mice exhibit progressive degeneration and lesions of the knee articular cartilage from 2-6 months of age
• lesions exhibit as either empty lacuna or confined loss of cartilage tissue
• 3 month old tamoxifen-treated mice show an early osteoarthritis-like phenotype, including loss of proteoglycan content and cartilage tissue and increased number of hypertrophic chondrocytes in articular cartilage
• 6 month old tamoxifen-treated mice exhibit more severe destruction of the articular cartilage, associated with greater loss of proteoglycan content and cartilage, osteophyte formation and increased subchondral bone mass

skeleton
• tamoxifen-treated mice exhibit increased articular chondrocyte apoptosis
• tamoxifen-treated mice exhibit progressive degeneration and lesions of the knee articular cartilage from 2-6 months of age
• lesions exhibit as either empty lacuna or confined loss of cartilage tissue
• 3 month old tamoxifen-treated mice show an early osteoarthritis-like phenotype, including loss of proteoglycan content and cartilage tissue and increased number of hypertrophic chondrocytes in articular cartilage
• 6 month old tamoxifen-treated mice exhibit more severe destruction of the articular cartilage, associated with greater loss of proteoglycan content and cartilage, osteophyte formation and increased subchondral bone mass
• osteophyte formation is seen in 6 month old tamoxifen-treated mice
• tamoxifen-treated mice exhibit synovial hyperplasia
• tamoxifen-treated mice show increased articular cartilage thickness at 2 months of age with zonal disruption and loss of proteoglycan content

cellular
• tamoxifen-treated mice exhibit increased articular chondrocyte apoptosis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteoarthritis DOID:8398 J:271724




Genotype
MGI:2680169
cn6
Allelic
Composition
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Tg(Mx1-cre)1Cgn/0
Genetic
Background
involves: 129 * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfbr1tm1.1Karl mutation (1 available); any Tgfbr1 mutation (24 available)
Tg(Mx1-cre)1Cgn mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
N
• normal hematopoiesis and hematopoietic stem cell self renewal and regenerative ability in spite of an increased hematopoietic stem cell proliferative capacity observed in vitro
• hematopoietic stem cells from polyIC-induced mice show increased proliferation recruitment when cultured as single cells under low stimulatory conditions in vitro

cellular
• hematopoietic stem cells from polyIC-induced mice show increased proliferation recruitment when cultured as single cells under low stimulatory conditions in vitro




Genotype
MGI:4398919
cn7
Allelic
Composition
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Tg(Acvrl1-cre)L1Spo/0
Genetic
Background
involves: 129 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Acvrl1-cre)L1Spo mutation (0 available)
Tgfbr1tm1.1Karl mutation (1 available); any Tgfbr1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice are viable and exhibit normal vasculature

cardiovascular system
N
• mice exhibit normal vasculature




Genotype
MGI:5308087
cn8
Allelic
Composition
Cd207tm2.1(cre)Bjec/Cd207+
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cd207tm2.1(cre)Bjec mutation (0 available); any Cd207 mutation (17 available)
Tgfbr1tm1.1Karl mutation (1 available); any Tgfbr1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• mice lack almost all CD207-positive dendritic cells (DCs) in the epidermis
• contact hypersensitivity assessed by ear swelling is attenuated at 24 hours after hapten challenge relative to wild-type controls

hematopoietic system
• mice lack almost all CD207-positive dendritic cells (DCs) in the epidermis




Genotype
MGI:5523277
cn9
Allelic
Composition
Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
A1cfTg(Myh6-cre/Esr1*)1Jmk/A1cf+
Genetic
Background
involves: 129S/Sv * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
A1cfTg(Myh6-cre/Esr1*)1Jmk mutation (3 available); any A1cf mutation (6 available)
Tgfbr1tm1.1Karl mutation (1 available); any Tgfbr1 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• by 6 days following IP tamoxifen treatment (80 mg/kg BW for 5 days), 60% mortality of treated mice is observed

cardiovascular system
N
• treatment of mice with oral dose of 160 mg/kg BW per day raloxifene for 21 days resulted in similar recombinase activity as the tamoxifen regimen, but does not cause any cardiac dysfunction; lower (20 mg/kg BW) oral tamoxifen treatment for 21 days does not cause dysfunction
• mice die by 6 days post-treatment (80 mg/kg BW IP for 5 days) from severe dilated cardiomyopathy
• oral delivery of 80 mg/kg BW tamoxifen for 7 days does not result in any mortality but treated mice exhibit a significant but reversible dilated cardiomyopathy
• 3 days after oral tamoxifen treatment, cardiac depression peaks with fractional shortening decreasing from 61 to 27% and end-diastolic dimension increasing significantly

muscle
• mice die by 6 days post-treatment (80 mg/kg BW IP for 5 days) from severe dilated cardiomyopathy
• oral delivery of 80 mg/kg BW tamoxifen for 7 days does not result in any mortality but treated mice exhibit a significant but reversible dilated cardiomyopathy
• 3 days after oral tamoxifen treatment, cardiac depression peaks with fractional shortening decreasing from 61 to 27% and end-diastolic dimension increasing significantly





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last database update
03/30/2021
MGI 6.16
The Jackson Laboratory