Analysis Tools
normal phenotype
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• animals are born at expected frequency and show no gross abnormalities
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Allele Symbol Allele Name Allele ID |
Stk11tm1.1Rdp targeted mutation 1.1, Ronald DePinho MGI:2387402 |
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| Summary |
17 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• animals are born at expected frequency and show no gross abnormalities
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice treated with a cre-expressing adenovirus in the liver exhibit normal serum insulin and liver triglyceride levels under fed and fasted conditions
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• mice treated with a cre-expressing adenovirus in the liver exhibit partial abrogation of glucose lowering effects of adiponectin compared with wild-type mice
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• in mice treated with a cre-expressing adenovirus in the liver under both fasted and fed conditions
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• mice treated with a cre-expressing adenovirus in the liver exhibit partially blocked adiponectin effect on hepatic glucose production compared with wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 65% of female mice develop endometrial carcinomas within nine months of having a Cre-expressing adenovirus injected into the lumen of their uterus
• tumors maintained polarity of cells found in normal endometrial glands
• the majority of tumors were confined to the uterus with one being diffusely metastatic throughout the peritoneum
• in some tumors, the mitotic activity and apoptotic index were significantly altered compared to normal endometrium tissue from the same mouse
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• 65% of female mice develop endometrial carcinomas within nine months of having a Cre-expressing adenovirus injected into the lumen of their uterus
• tumors maintained polarity of cells found in normal endometrial glands
• the majority of tumors were confined to the uterus with one being diffusely metastatic throughout the peritoneum
• in some tumors, the mitotic activity and apoptotic index were significantly altered compared to normal endometrium tissue from the same mouse
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice treated with 4-hydroxytamoxifen (4-OHT) neonatally or in adulthood exhibit enhanced nevus formation
• mice treated with 4-OHT neonatally develop melanoma with 85% penetrance and a median latency of 22.1 weeks
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• mice treated with 4-hydroxytamoxifen (4-OHT) neonatally or in adulthood exhibit enhanced nevus formation
• mice treated with 4-OHT neonatally develop melanoma with 85% penetrance and a median latency of 22.1 weeks
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• 36% of mice treated with 4-OHT neonatally that develop melanoma show macrometastatic spread to lymph nodes, lung, spleen and/or liver
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| skin melanoma | DOID:8923 |
OMIM:608035 OMIM:612263 |
J:220627 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice inoculated with an adenovirus expressing cre recombinase (ad-cre) by inhalation have a mean survival of 9 weeks after ad-cre inoculation
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• regional lymph-node metastases and axial skeleton metastases are seen in 61% of ad-cre inoculated mice
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• mice inoculated with ad-cre develop lung tumors; tumor burden is increased at early time points and larger lesions at later time points are seen than in single Kras mutants
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• adenocarcinoma is seen in all metastatic lesions
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• 2 of 27 ad-cre treated mice show large cell carcinoma
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• 56% of ad-cre treated mice develop squamous cell carcinomas (SCCs) or adenosquamous carcinomas
• squamous tumors do not express pro-surfactant protein, but express pan-keratin and p63, markers of SCC
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• mice inoculated with ad-cre develop lung tumors; tumor burden is increased at early time points and larger lesions at later time points are seen than in single Kras mutants
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• adenocarcinoma is seen in all metastatic lesions
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• 2 of 27 ad-cre treated mice show large cell carcinoma
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• 56% of ad-cre treated mice develop squamous cell carcinomas (SCCs) or adenosquamous carcinomas
• squamous tumors do not express pro-surfactant protein, but express pan-keratin and p63, markers of SCC
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| lung non-small cell carcinoma | DOID:3908 | J:124682 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice inoculated with an adenovirus expressing cre recombinase (ad-cre) by inhalation have a median survival of 9 weeks after ad-cre inoculation
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• regional lymph-node metastases and axial skeleton metastases are seen in 61% of ad-cre inoculated mice
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• mice inoculated with ad-cre develop lung tumors; tumor burden is increased at early time points and larger lesions at later time points are seen than in single Kras mutants
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• adenocarcinoma is seen in all metastatic lesions
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• 2 of 27 ad-cre treated mice show large cell carcinoma
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• 56% of ad-cre treated mice develop squamous cell carcinomas (SCCs) or adenosquamous carcinomas
• squamous tumors do not express pro-surfactant protein, but express pan-keratin and p63, markers of SCC
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• mice inoculated with ad-cre develop lung tumors; tumor burden is increased at early time points and larger lesions at later time points are seen than in single Kras mutants
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• adenocarcinoma is seen in all metastatic lesions
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• 2 of 27 ad-cre treated mice show large cell carcinoma
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• 56% of ad-cre treated mice develop squamous cell carcinomas (SCCs) or adenosquamous carcinomas
• squamous tumors do not express pro-surfactant protein, but express pan-keratin and p63, markers of SCC
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| lung non-small cell carcinoma | DOID:3908 | J:124682 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all newborns are unable to feed normally and die during the first day after birth
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• newborns show severe craniofacial abnormalities
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• at P0, cephalic neural crest cells (CNCC)-derived bones of the cranial base show significant surface reduction
• in contrast, mesodermal-derived occipital bones (e.g. basioccipital bone) are unaffected
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• at P0, some bones of the skull vault, esp. the frontal bone, show significant surface reduction
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• anterior fontanel is wide open at P0
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• sphenoid alae show significant surface reduction
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• squamous temporal bone shows significant surface reduction
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• although mandibles are shorter, they exhibit a distinct hyperplasia at the alveolar part of the mandible
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• average mandible length is significantly reduced
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• nasal bone exhibits increased porosity
• however, nasal bone surface area is unaffected
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• palatine shows significant surface reduction
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• newborns exhibit a large cleft of the secondary palate
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• newborns exhibit a shortened nose
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• at P0, cephalic neural crest cells (CNCC)-derived bones of the cranial base show significant surface reduction
• in contrast, mesodermal-derived occipital bones (e.g. basioccipital bone) are unaffected
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• at P0, some bones of the skull vault, esp. the frontal bone, show significant surface reduction
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• anterior fontanel is wide open at P0
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• sphenoid alae show significant surface reduction
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• squamous temporal bone shows significant surface reduction
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• although mandibles are shorter, they exhibit a distinct hyperplasia at the alveolar part of the mandible
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• average mandible length is significantly reduced
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• nasal bone exhibits increased porosity
• however, nasal bone surface area is unaffected
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• palatine shows significant surface reduction
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• many bones of the skull exhibit osteopenia
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• at P0, head skeleton shows both ossification and cartilage defects
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• although mandibles are shorter, they exhibit a distinct hyperplasia at the alveolar part of the mandible
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• nasal bone exhibits increased porosity
• however, nasal bone surface area is unaffected
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• newborns exhibit a large cleft of the secondary palate
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• newborns exhibit a shortened nose
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• newborns exhibit a reduced stature
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• newborns exhibit a large cleft of the secondary palate
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• newborns are unable to feed normally
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• nasal bone exhibits increased porosity
• however, nasal bone surface area is unaffected
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are euthanized at 4 to 6 weeks due to massive gastrointestinal tumors
• however, mice survive to birth and postnatally
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• massive gastrointestinal tumors
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• massive gastrointestinal tumors
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| N |
• axon bundles are normal in the brainstem trigeminal complex, ascending tracts in the spinal cord (spinocerebellar, spinothalamic and dorsal funiculus), the optic nerve and motor and sensory nerves in the periphery
• mice exhibit normal type Ia proprioceptive sensory neuron projections to the ventral horn
• mice exhibit no sensory or motor deficit
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• axons tracts in the cortical intermediate zone are reduced compared to in control mice
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• thin-walled
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| N |
• mice exhibit no sensory or motor deficit
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal type Ia proprioceptive sensory neuron projections to the ventral horn
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• metaplastic lesions are observed with contributions from acinar and ductal cells consistent with active acinar-ductal transdifferentiation
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• at P1 acinar units are less compact with distended lumens; in some regions, acinar units are fragmented and intermixed with endocrine cells
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• from P2 to P8, a rapid loss of acinar cells is observed, associated with appearance of abnormal ductal structures
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• at P3, TUNEL assays reveal an 18-fold increase in acinar cell death in the pancreas relative to controls
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• metaplastic lesions are observed with contributions from acinar and ductal cells consistent with active acinar-ductal transdifferentiation
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• at P1 acinar units are less compact with distended lumens; in some regions, acinar units are fragmented and intermixed with endocrine cells
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• from P2 to P8, a rapid loss of acinar cells is observed, associated with appearance of abnormal ductal structures
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• islets are smaller and less well aggregated at P1 with a more diffuse distribution relative to wild-type; aggregation of islets is delayed with accumulation of smaller islets by P16
• at P1, there are decreased numbers of alpha, beta, and delta cells in the pancreas
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• at P1
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• at P1
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• at P1
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• islets are smaller and less well aggregated at P1 with a more diffuse distribution relative to wild-type; aggregation of islets is delayed with accumulation of smaller islets by P16
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• at P1, pancreas is smaller than in littermate controls
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• from P2 to P8, reactive fibrosis is observed in conjunction with acinar cell loss and abnormal ductal structures
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• at P1, mice have elevated blood glucose levels but these return to normal by P8
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• adult mutants show improved beta cell function relative to wild-type with faster clearance of blood glucose
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• at P3, TUNEL assays reveal an 18-fold increase in acinar cell death in the pancreas relative to controls
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Peutz-Jeghers syndrome | DOID:3852 |
OMIM:175200 |
J:134078 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• animals are smaller than controls
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• some mice develop SCC (spontaneously) by 40 weeks of age (>20%)
• all DMBA-treated mutant mice develop invasive skin cancers determined to be SCC with an average latency of 8 weeks, whereas no DMBA-treated controls develop cancer
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• due to hyperkeratinization of corneal epithelium
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• mice show delayed hair growth
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• adult hair is less dense than in controls
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• adult hair is wavy
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• hair shaft diameter is reduced relative to controls
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• mild follicular plugging (keratinous debris filling follicular openings) is observed
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• increased relative to controls
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Peutz-Jeghers syndrome | DOID:3852 |
OMIM:175200 |
J:131037 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• dorsal root ganglia explants from E13.5 embryos exhibit reduced axonal growth in vitro compared with control samples
• however, sensory neurons exhibit normal polarization
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• E13.5 limbs exhibit strongly reduced overall axonal coverage and total number of axonal branches compared with control limbs
• however, no increase in apoptosis is observed and mitochondria motility is normal
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• reduced axonal ATP levels
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• dorsal root ganglia explants from E13.5 embryos exhibit reduced axonal growth in vitro compared with control samples
• however, sensory neurons exhibit normal polarization
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• females display a marked increase in mortality; females begin to die at 17 weeks of age and all females are dead by 30 weeks
• death in most animals is infiltration of endometrial cancer into the urinary bladder
• 4 weeks of daily rapamycin treatment (started around 30 weeks) extended lifespan to 36 weeks+ compared to untreated control mutants
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• endometrial carcinoma spreads to adjacent organs in older animals
• distant metastases (such as pulmonary or subcutaneous nodules) are observed infrequently
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• female mortality results from invasive endometrial cancers
• tumor infiltration is progressive throughout the uteri resulting in diffuse uterine enlargement with increasing age
• uteri develop normally and are normal in size through onset of sexual maturity, but by 16 weeks of age there is significant uterine enlargement; in females surviving to 28 weeks, the average uterine weight is increased around 10 fold relative to controls
• by 12 weeks of age, diffuse infiltration of the myometrium is observed in most animals
• in older animals endometrial carcinoma spreads to adjacent organs, most significantly the ovary, cervix and bladder
• daily intraperitoneal rapamycin injections for 4 weeks (started around 30 weeks) slowed significantly slowed progression, resulting in 2.4 fold decrease in mean uterine weights; tumor burden is reduced and increased apoptotic cell death is detected in endometrial epithelial cells
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• female mortality results from invasive endometrial cancers
• tumor infiltration is progressive throughout the uteri resulting in diffuse uterine enlargement with increasing age
• uteri develop normally and are normal in size through onset of sexual maturity, but by 16 weeks of age there is significant uterine enlargement; in females surviving to 28 weeks, the average uterine weight is increased around 10 fold relative to controls
• by 12 weeks of age, diffuse infiltration of the myometrium is observed in most animals
• in older animals endometrial carcinoma spreads to adjacent organs, most significantly the ovary, cervix and bladder
• daily intraperitoneal rapamycin injections for 4 weeks (started around 30 weeks) slowed significantly slowed progression, resulting in 2.4 fold decrease in mean uterine weights; tumor burden is reduced and increased apoptotic cell death is detected in endometrial epithelial cells
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• by 12 weeks of age, diffuse infiltration of the myometrium is observed in most animals
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• uteri develop normally and are normal in size through onset of sexual maturity, but by 16 weeks of age there is significant uterine enlargement; in females surviving to 28 weeks, the average uterine weight is increased around 10 fold relative to controls
• tumor infiltration is progressive throughout the uteri resulting in diffuse uterine enlargement with increasing age
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• by 16 weeks of age, there is significant uterine enlargement and in
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• results from infiltration of endometrial carcinoma into the bladder
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• uteri develop normally and are normal in size through onset of sexual maturity, but by 16 weeks of age there is significant uterine enlargement; in females surviving to 28 weeks, the average uterine weight is increased around 10 fold relative to controls
• tumor infiltration is progressive throughout the uteri resulting in diffuse uterine enlargement with increasing age
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• urinary tract obstruction result from tumor infiltration into the bladder
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• invasion through uterine wall results in peritonitis in some animals, contributing to morbity
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• invasion through uterine wall results in peritonitis in some animals, contributing to morbity
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• invasion through uterine wall results in sepsis in some animals, contributing to morbity
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| endometrial cancer | DOID:1380 |
OMIM:608089 |
J:158190 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 75% of tamoxifen-treated animals develop gastrointestinal polyposis by 11 months
• average size of polyps is comparable to that seen in double heterozygotes
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• tumor formation (polyposis) in the gastrointestinal tract is increased greatly relative to controls
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• tumor formation (polyposis) in the gastrointestinal tract is increased greatly relative to controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• almost 50% of tamoxifen-treated animals die by 18 months from gastrointestinal obstruction (average lifespan 13.5 months); widespread gastrointestinal polyposis is found at time of necropsy
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| N |
• with 2 intraperitoneal injections of tamoxifen at 6 weeks of age, no abnormalities are seen at 3 and 8 months of age
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• at 11 months, gastrointestinal tract polyps are observed in <60% of tamoxifen-treated animals
• average polyp size is smaller than in Stk11tm1.2Rdp/+ mice at 11 months
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• tumor formation (polyposis) in the gastrointestinal tract is increased greatly relative to controls
• tumors are characterized by a smooth muscle core, abundant stroma and hyperplastic epithelia without dysplasia
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• at 11 months, mice present with severe gastrointestinal obstruction
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• tumor formation (polyposis) in the gastrointestinal tract is increased greatly relative to controls
• tumors are characterized by a smooth muscle core, abundant stroma and hyperplastic epithelia without dysplasia
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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 04/16/2024 MGI 6.23 |
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