integument
N |
• no calcification occurs in the fibrous capsule surrounding the muzzle vibrissae
|
Allele Symbol Allele Name Allele ID |
Tg(Cdh5-cre)7Mlia transgene insertion 7, M Luisa Iruela-Arispe MGI:3620560 |
Summary |
23 genotypes |
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|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• no calcification occurs in the fibrous capsule surrounding the muzzle vibrissae
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• increased cardiac mass as compared to controls
|
• less than half of mice survive to 6 months of age
|
• increased cardiac mass as compared to controls
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• contrary to previous reports, viable mice are produced
|
• abnormal positioning of the aorta and pulmonary trunk
|
• abnormal positioning of the aorta and pulmonary trunk
|
• fragile and hemorrhaging in embryos and neonates
• thin and disorganized
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• hypertrophy
|
• incomplete at E14.5
|
• large and hyperplastic (myxomatous)
• neonates exhibit bulges near the valve annulus
• cartilage nodules and calcification in the annulus of adults
|
• thick at P10 with lower nuclear density indicating changes in the extracellular matrix rather than increase in cell density
• increased outflow tract valve leaflet width in adults
|
• increased area
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• near the apex
|
• severe
|
• with severe regurgitation at the pulmonic valve
|
N |
• mice exhibit normal bile duct formation
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Alagille syndrome | DOID:9245 |
OMIM:118450 OMIM:610205 |
J:189213 |
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|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• isolated primary mouse pulmonary endothelial cells (mECs) display a severely impaired ability to spread on laminin and, to a lesser extent, collagen I coated transwells
|
• isolated primary mouse pulmonary endothelial cells (mECs) show a significant increase in static adhesion to fibronectin but not to laminin, collagen (type I or type IV) or gelatin relative to control cells
• however, mECs spread normally when plated on fibronectin-coated transwells
|
• 2-fold increase in basal lung vascular permeability, as shown by Evans blue dye vascular leakage assays on naive mice
• additional increase in inflammation-induced lung vascular permeability following intra-tracheal LPS treatment
• however, no detectable changes in the ratio of wet/dry lung weight, in vascular density, or in the frequency and phenotype of endothelial cells relative to controls
|
• isolated primary mouse pulmonary endothelial cells (mECs) display a severely impaired ability to spread on laminin and, to a lesser extent, collagen I coated transwells
|
• isolated primary mouse pulmonary endothelial cells (mECs) show a significant increase in static adhesion to fibronectin but not to laminin, collagen (type I or type IV) or gelatin relative to control cells
• however, mECs spread normally when plated on fibronectin-coated transwells
|
• mislocalization of structural matrix proteins in the lung
|
• increase in airspace size upon lung inflation at a fixed pressure with an open thoracic cavity, as shown by increased mean linear intercept (MLI) at 10 weeks but not at 1-3 weeks of age
• however, normal sized airspace and alveolar architecture upon lung inflation with a constant volume under closed chest conditions at 10 weeks of age
|
• >30% increase in elastin-free fibrillar collagen fibers in alveolar lung tissue, primarily in larger alveolar spaces
|
• density of elastin fiber staining is marginally decreased within lung parenchyma tissue as shown by Gomoris aldehyde fuchsin staining, despite an observed increase in elastin transcript levels
|
• increase in mean lung volume upon inflation at constant pressure with an open thoracic cavity at 4 and 10 weeks of age
|
• increased total lung and airway resistance under closed chest conditions
• however, no significant alterations in total lung capacity or compliance
|
• isolated primary mouse pulmonary endothelial cells (mECs) display a severely impaired ability to spread on laminin and, to a lesser extent, collagen I coated transwells
|
• isolated primary mouse pulmonary endothelial cells (mECs) show a significant increase in static adhesion to fibronectin but not to laminin, collagen (type I or type IV) or gelatin relative to control cells
• however, mECs spread normally when plated on fibronectin-coated transwells
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• arrested
|
• at E10.5, atrioventricular cushions exhibit rounded endocardial-derived cells that accumulate at the cushion interface and less dense, hypoplastic areas unlike in control mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• temporarily delayed at E10.5
|
• at E10.5, atrioventricular cushions exhibit rounded endocardial-derived cells that accumulate at the cushion interface and less dense, hypoplastic areas unlike in control mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• mice do not develop hyperglycemia even at 14 weeks of age
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• significantly reduced B16 melanoma lung metastasis
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• die before P68 with vascular complications
|
• 100% of mutants develop myeloproliferative disorder at about P30
|
• mutants exhibit vascular complication
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• mice exhibit normal adult hematopoiesis
|
N |
• mice exhibit normal B cell and T cell development
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• 70% of mutants exhibit enlarged thymus
|
• splenomegaly
|
• progressive development of myeloproliferative disorder and leukemogenesis in the chronic phase followed by blast crisis
|
• 2-3 months after birth, mutants show increased circulating neutrophils and white blood cells and leukemic blast invasion into hematopoietic and non-hematopoietic organs
|
• one month after birth, mutants develop a myeloid shift with increased neutrophil counts
|
• 70% of mutants exhibit enlarged thymus
|
• splenomegaly
|
• 2-3 months after birth, mutants show increased circulating neutrophils and white blood cells and leukemic blast invasion into hematopoietic and non-hematopoietic organs
|
• one month after birth, mutants develop a myeloid shift with increased neutrophil counts
|
• 70% of mutants exhibit enlarged lymph nodes
|
• hepatomegaly
|
• 74% of mutants develop T-lymphoblastic leukemia
|
• 26% of mutants develop acute myeloid leukemia
|
• 70% of mutants exhibit enlarged thymus
|
• hepatomegaly
|
• splenomegaly
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• increased resting heat production compared with controls
|
• endothelial cell and fibroblast mitochondria exhibit almost no calcium uptake in response to extramitochondrial calcium ion pulses unlike control cells
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• at P5, retinal blood vessels exhibit reduced total length and number of branches compared to in wild-type mice
|
• reduced pericyte staining
|
• at P5, retinal blood vessels exhibit reduced total length and number of branches compared to in wild-type mice
|
• at P5, retinal blood vessels exhibit reduced total length and number of branches compared to in wild-type mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• cardiomyocytes, endothelial cells and fibroblast mitochondria exhibit almost no calcium uptake in response to extramitochondrial calcium ion pulses unlike control cells
• however, mitochondrial membrane potential is normal
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• pinch-mediated injury of the gastrocnemius or tibialis anterior hindlimb muscles of adults does not cause heterotopic ossification
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• hypoxia induced retinal neovascularization is decreased compared to controls
|
• vascularization of implanted tumors is reduced compared to controls
|
• vascularization of implanted tumors is reduced compared to controls
|
• growth of implanted Lewis lung carcinomas is reduced compared to controls
|
• hypoxia induced retinal neovascularization is decreased compared to controls
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• 43% reduction in the number of implantation sites compared to controls
|
• change in permeability of uterine vasculature following hormone treatment (E2 + P4) is significantly reduced
• increase in albumin extravasation during pregnancy is significantly reduced
|
• changes in permeability of uterine vasculature following hormone treatment (E2 + P4) and during pregnancy are significantly reduced
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
Reduced tumor growth in Epn1tm1.1Wami/Epn1tm1.1Wami Epn2tm1Ocr/Epn2tm1Ocr Tg(Cdh5-cre/ERT2)CIVE23Mlia/0 and Epn1tm1.1Wami/Epn1tm1.1Wami Epn2tm1Ocr/Epn2tm1Ocr Tg(Cdh5-cre)7Mlia/0 mice
• mice transplanted with Lewis Lung carcinoma (LLC) cells develop fewer tumors that grow at a slower rate compared with control mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• following acute lung injury, dipyridamole-treated mice exhibit normal PMN trafficking
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice exhibit normal embryonic survival
|
• mice exhibit normal cardiac phenotype
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice are viable and fertile; no phenotypic abnormalities are detected
|
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 11/19/2024 MGI 6.24 |
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