Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tgfbr1tm1.1Karl targeted mutation 1.1, Stefan Karlsson MGI:2680164 |
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| Summary |
10 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryonic lethality at mid gestation
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• develop similar yolk sac defects as Tgfbr1 null mice
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• develop similar yolk sac defects as Tgfbr1 null mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die after birth
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• 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
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• bronchiolar epithelial progenitor cell differentiation is impaired
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• Clara cell numbers are reduced in E18.5 lungs
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• lungs are smaller at E15.5
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• distal airways are composed of highly disorganized cells
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• enlarged airways in the lungs at E15.5
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• fail to develop ventral skin
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are present at E9.5 but dead by E12.5
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• at E9.5
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• mice lack networks of vessels at all stages
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• at E9.5, mice appear delayed by 1 day
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• yolk sacs possess greater numbers of vascular smooth muscle cells than in wild-type yolk sacs
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• at E9.5, mice appear delayed by 1 day
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• at E9.5
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• mice lack networks of vessels at all stages
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• at E9.5, hearts exhibit pericardial effusion
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• at E9.5, hearts exhibit pericardial effusion
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| ♀ | 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
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• 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)
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• 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
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• 33% of mice develop visible anal tumors in 6 weeks after tamoxifen treatment
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• 4 weeks after oral tamoxifen treatment for 5 consecutive days, hyperplasia is seen in the perianal areas
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| anal canal carcinoma | DOID:6126 |
OMIM:105580 |
J:209026 | |
| head and neck squamous cell carcinoma | DOID:5520 |
OMIM:275355 |
J:194652 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• tamoxifen-treated mice exhibit increased articular chondrocyte apoptosis
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• 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
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• osteophyte formation is seen in 6 month old tamoxifen-treated mice
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• tamoxifen-treated mice exhibit synovial hyperplasia
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• tamoxifen-treated mice show increased articular cartilage thickness at 2 months of age with zonal disruption and loss of proteoglycan content
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• tamoxifen-treated mice exhibit increased articular chondrocyte apoptosis
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| osteoarthritis | DOID:8398 | J:271724 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| 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
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• hematopoietic stem cells from polyIC-induced mice show increased proliferation recruitment when cultured as single cells under low stimulatory conditions in vitro
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• hematopoietic stem cells from polyIC-induced mice show increased proliferation recruitment when cultured as single cells under low stimulatory conditions in vitro
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are viable and exhibit normal vasculature
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| N |
• mice exhibit normal vasculature
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• fetuses fail to survive beyond E15
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• starting at E10, the maxillary process is hypoplastic as a result of dramatic apoptosis occurring at the medial border of the maxillary process bilaterally around E9.5
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• TUNEL assays showed increased apoptosis in the mesenchyme of the anterior aspect of the medial nasal process (MNP)
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• development of the palatal shelves is delayed at E13.5, suggesting that secondary palate fusion is extremely unlikely (cleft palate not confirmed due to lethality at E15)
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• at E13.5, palatal shelves are hypoplastic
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• at E13.5, embryos exhibit unilateral, or occasionally, bilateral cleft lip extending into the nostril; overall penetrance of cleft lip is 64%
• TUNEL assays showed decreased apoptosis in the epithelial seam between the medial nasal process (MNP) and the maxillary process (MAX) at E11
• at E11, the contact between the medial (MNP) and lateral nasal processes (LNP) is greatly reduced with no apparent involvement of the MAX, resulting in a very small epithelial seam
• cleft lip may be caused by inadequate contact between the MNP and MAX, due to morphological differences, exacerbated by reduced apoptosis and seam persistence
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• occasionally at E13.5
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• frequently at E13.5
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• development of the palatal shelves is delayed at E13.5, suggesting that secondary palate fusion is extremely unlikely (cleft palate not confirmed due to lethality at E15)
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• at E13.5, palatal shelves are hypoplastic
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• development of the palatal shelves is delayed at E13.5, suggesting that secondary palate fusion is extremely unlikely (cleft palate not confirmed due to lethality at E15)
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• at E13.5, palatal shelves are hypoplastic
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• at E13.5, embryos exhibit unilateral, or occasionally, bilateral cleft lip extending into the nostril; overall penetrance of cleft lip is 64%
• TUNEL assays showed decreased apoptosis in the epithelial seam between the medial nasal process (MNP) and the maxillary process (MAX) at E11
• at E11, the contact between the medial (MNP) and lateral nasal processes (LNP) is greatly reduced with no apparent involvement of the MAX, resulting in a very small epithelial seam
• cleft lip may be caused by inadequate contact between the MNP and MAX, due to morphological differences, exacerbated by reduced apoptosis and seam persistence
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• occasionally at E13.5
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• frequently at E13.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice lack almost all CD207-positive dendritic cells (DCs) in the epidermis
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• contact hypersensitivity assessed by ear swelling is attenuated at 24 hours after hapten challenge relative to wild-type controls
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• mice lack almost all CD207-positive dendritic cells (DCs) in the epidermis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by 6 days following IP tamoxifen treatment (80 mg/kg BW for 5 days), 60% mortality of treated mice is observed
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| 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
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• 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
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• 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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• 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
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• 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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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 12/10/2024 MGI 6.24 |
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