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Allele Symbol Allele Name Allele ID |
Tg(Col1a1-cre)1Bek transgene insertion 1, Barbara E Kream MGI:3574761 |
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| Summary |
8 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E14.5-15.5
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• characterized by a primary atrial septal defect as well as ventricular septal defect
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• in some embryos
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in 1 embryo at E14.5-E15.5
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• at E9.5, appears wider and contains excessive extracellular matrix and mesenchyme
• the pulmonary pit is not well defined
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• at E14.5-15.5
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• in over 75% of E14.5 embryos the common pulmonary venous return is not properly positioned in the left atrium
• in 2 embryos the pulmonary venous orifice is found to the right of the rudimentary primary atrial septum in the posterior right atrial wall
• in 2 embryos the pulmonary vein connects to the junctional areal between the future right superior caval vein and the right atrium
• in 3 embryos the common pulmonary vein drains very low in the right atrium close to where the left sinus horn connects to the right atrium
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• characterized by a primary atrial septal defect as well as ventricular septal defect
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• in some embryos
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| scimitar syndrome | DOID:4297 |
OMIM:106700 |
J:308860 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• detected many proliferating cochlear supporting cells at E13.5 and E18.5 when these cells are normally postmitotic, indicating that differentiated cells continue to cycle and divide
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• proliferating cells were found in the zone of nonproliferating cells in the primordial organ of Corti at E13.5
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• increased hair bundle number in E18.5 cochleas with many improperly oriented
• detected many proliferating hair cells at E13.5 and E18.5 when these cells are normally postmitotic, indicating that differentiated cells continue to cycle and divide
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• cochleas had 3-4 rows of inner hair cells compared to one row of inner hair cells in wildtype
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• cochleas had 7-8 rows of outer hair cells compared to 3 rows of outer hair cells in wildtype
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• increased ratio of outer hair cells to Deiters' cells, suggesting continous hair cell division
• increased numbers of Deiters' cells, but not pillar cells, than in controls
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• E18.5 utricles had 40% more cells with bundles
• proliferating hair cells and supporting cells were seen in the utricle at E13.5 and E18.5 when these cells are normally postmitotic, however, cell fate determination and subsequent differentiation was intact in these proliferating cells
• observed hair cells in metaphase in E18.5 utricles
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• transduction currents in ear hair cells were smaller than in controls (10-20 pA versus 200 pA in controls)
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• increased hair bundle number in E18.5 cochleas with many improperly oriented
• detected many proliferating hair cells at E13.5 and E18.5 when these cells are normally postmitotic, indicating that differentiated cells continue to cycle and divide
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• cochleas had 3-4 rows of inner hair cells compared to one row of inner hair cells in wildtype
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• cochleas had 7-8 rows of outer hair cells compared to 3 rows of outer hair cells in wildtype
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• E18.5 utricles had 40% more cells with bundles
• proliferating hair cells and supporting cells were seen in the utricle at E13.5 and E18.5 when these cells are normally postmitotic, however, cell fate determination and subsequent differentiation was intact in these proliferating cells
• observed hair cells in metaphase in E18.5 utricles
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• detected many proliferating cochlear supporting cells at E13.5 and E18.5 when these cells are normally postmitotic, indicating that differentiated cells continue to cycle and divide
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Decrease in trabecular and cortical bone in adult Pkd1tm2Ggg/Pkd1+ Tg(Col1a1-cre)1Bek/0 and Pkd1tm2Ggg/Pkd1tm2Ggg Tg(Col1a1-cre)1Bek/0 mice
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• osteoblasts show impaired differentiation and maturation, as shown by culture duration-dependent reductions in ALP activity, diminished calcium deposition in extracellular matrix and a reduction in osteoblastic differentiation markers
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• primary calvarial osteoblasts exhibit an increase in BrdU incorporation
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• bone mineral density is reduced by 21-22% in both males and females at 6 weeks of age
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• males show a 40% reduction in trabecular bone volume
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• males show a 15% reduction in cortical bone thickness
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• periosteal mineral apposition rate is reduced by 19%
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• osteoblasts show impaired differentiation and maturation, as shown by culture duration-dependent reductions in ALP activity, diminished calcium deposition in extracellular matrix and a reduction in osteoblastic differentiation markers
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• primary calvarial osteoblasts exhibit an increase in BrdU incorporation
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| N |
• pancreatic cysts are not observed in embryos or at 6 weeks of age
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| N |
• kidney cysts are not observed in embryos or at 6 weeks of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Pkd1tm2Ggg/Pkd1tm2Ggg Tg(Col1a1-cre)1Bek/0 mice develop polycystic pancreas and kidney
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• 50% mortality rate between birth and 6 months of age
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• 50% mortality rate between birth and 6 months of age
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• pancreatic cysts first become apparent at E15.5 and severe multiple cysts are seen by 6 weeks of age
• however, endocrine islet formation in pancreas is unaffected
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• renal tubule cysts first become apparent at E15.5 and severe multiple cysts in the kidney are seen by 6 weeks of age
• however, glomeruli formation in the kidney is unaffected
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• at 6 weeks of age
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• renal tubule cysts first become apparent at E15.5 and severe multiple cysts in the kidney are seen by 6 weeks of age
• however, glomeruli formation in the kidney is unaffected
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• renal fibrosis of polycystic kidney starts at P7 and progressively becomes more severe by 6 weeks of age
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• formation of pancreatic cysts lead to expansion of the pancreatic ducts and leads to massive acinar cell loss, formation of abnormal tubular structures, and appearance of endocrine cells in ducts
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• pancreatic cysts first become apparent at E15.5 and severe multiple cysts are seen by 6 weeks of age
• however, endocrine islet formation in pancreas is unaffected
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• osteoblasts show impaired differentiation and maturation, as shown by culture duration-dependent reductions in ALP activity, diminished calcium deposition in extracellular matrix and a reduction in osteoblastic differentiation markers
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• primary calvarial osteoblasts exhibit an increase in BrdU incorporation
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• 17% shorter in length
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• number of adipocytes and fat droplets in tibia bone marrow are increased in 6 week old mutants
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• adults exhibit severe osteopenia, with bone mineral density reduced by 35% and 36% in adult males and females, respectively
• however, newborns do not have skeletal abnormalities
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• 73% reduction in trabecular bone volume
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• 41% reduction in cortical bone thickness
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• periosteal mineral apposition rate is reduced by 41%
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• increase in adipogenesis in bone marrow and in bone marrow stromal cultures; higher number of adipocytes and volume of fat droplets in tibias
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• formation of pancreatic cysts lead to expansion of the pancreatic ducts and leads to massive acinar cell loss, formation of abnormal tubular structures, and appearance of endocrine cells in ducts
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• osteoblasts show impaired differentiation and maturation, as shown by culture duration-dependent reductions in ALP activity, diminished calcium deposition in extracellular matrix and a reduction in osteoblastic differentiation markers
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• primary calvarial osteoblasts exhibit an increase in BrdU incorporation
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• at 6 weeks of age
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• at 6 weeks of age
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• levels of serum phosphorus are lower at 6 weeks of age
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• 17% shorter in length
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| polycystic kidney disease 1 | DOID:0110858 |
OMIM:173900 |
J:191967 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Osteopenia in newborn Pkd1tm1Ggg/Pkd1tm2Ggg Tg(Col1a1-cre)1Bek/0 mice
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• newborns have short and less mineralized femurs
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• newborns have short and less mineralized femurs
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• osteopenia is seen in newborns
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• in newborns
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• in newborns
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• newborns show a delay in bone mineralization in calvarial and vertebral bone tissues
• bone phenotype is more severe than in Pkd1tm1Ggg/Pkd1tm1Ggg Tg(Col1a1-cre)1Bek/0 mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 2 weeks but not 2-4 months
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• enlarged intervertebral space in the vertebrae
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• slight at 2 weeks
• at 4 months
• in the lumbar vertebrae and hip region
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• smaller unfused at 2 weeks
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• thinner bones at 2 weeks, progressive
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• reduced mesenchymal stem cell population and capacity to differentiate to mature osteoblasts
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• decrease in osteoclasts covering bone surface or number of osteoclasts per unit of bone surface at 2 weeks
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• in the tibia, femur and humerus
• however, cortical thickness is normal
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• fewer mature cuboidal polarized osteoblasts from 5 days to 6 months
• decrease in the region of mature osteoblasts covering the bone surface and number of mature osteoblasts per bone surface at 8 weeks
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• increase in rod-like quality of trabeculae
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• reduced bone mineralizing surface and mineral apposition rate in the bone marrow trabeculae and in the periosteum
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• decreased bone formation
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• more brittle
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• decreased vascularization in the bone (diaphysis and metaphysis)
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• at 2 weeks but not 2-4 months
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• reduced mesenchymal stem cell population and capacity to differentiate to mature osteoblasts
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• decrease in osteoclasts covering bone surface or number of osteoclasts per unit of bone surface at 2 weeks
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• decrease in osteoclasts covering bone surface or number of osteoclasts per unit of bone surface at 2 weeks
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• T9 is the transitional vertebra in 4 of 16 mice
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• T13 to L1 transformation in 7 of 16 mice
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• L6 to S1 transformation in 14 of 16 mice
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• S4 to S3 transformation in 11 of 16 mice
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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 04/23/2024 MGI 6.23 |
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