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Allele Symbol Allele Name Allele ID |
Men1tm1.2Ctre targeted mutation 1.2, Judy S Crabtree MGI:2683274 |
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| Summary |
13 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• fate mapping of Pax3 derivatives showed normal heart septation and cellular contributions to the outflow tract in newborn pups
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| N |
• fate mapping of Pax3 derivatives showed normal patterning of enteric ganglia in the stomach and gastrointestinal tract of newborn pups
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice are healthy and fertile with no apparent endocrine hyperplasia or tumor formation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• pups die at birth (58 of 84) or during the first postnatal day (P1)
• however, mice are recovered at Mendelian ratios at E14.5
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• some pups fail to initiate effective respirations, as indicated by cyanosis, gasping and uninflated or under-inflated lungs
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• pups that fail to initiate effective respirations exhibit gasping
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• some pups lack milk in their stomach
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• at E14.5, the extracellular area within the unfused palatal shelf tips is significantly reduced, suggesting less differentiated palatal mesenchyme
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• intact E15.5 palatal shelves show decreased CDKN1B (cyclin dependent kinase inhibitor 1B) protein expression within the palatal mesenchyme, suggesting changes in cell proliferation
• a ~2-fold increase in the rate of proliferation of palatal shelf mesenchymal cells is seen at E14.5
• however, TUNEL analysis showed no changes in apoptosis at E14.5
|
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• at E14.5, a significant increase in cell density is seen within the unfused shelves esp. in the lateral areas adjacent to the epithelium
• the extracellular area within the unfused palatal shelf tips is significantly reduced, suggesting less differentiated palatal mesenchyme
|
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• at E16.5, formation of ossified palatal shelves is severely delayed or absent; however, bone marker analysis showed normal expression of Runx2, osterix, and osteocalcin
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• although palatal shelves are always normally developed and positioned at E13.5 and lifted and apposed at E14.5, palatal shelf contact or fusion is often not observed
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• despite increased cell density, palatal shelves are hypoplastic and fail to fuse
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• 3 of 11 pups exhibit shortened soft palates that do not extend to the epiglottis
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• 10 of 84 newborns exhibit a bilateral cleft of the secondary palate of variable severity
• however, cleft jaw and lip are never observed
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• many pups exhibit a shortened, dysmorphic snout
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• newborns with or without cleft palate show a consistently malformed basisphenoid bone
• patterning defects in the basisphenoid bone are already noted at E16.5
|
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• newborns with or without cleft palate exhibit abnormal length and broadness of the pterygoid processes
|
|
• at E14.5, the extracellular area within the unfused palatal shelf tips is significantly reduced, suggesting less differentiated palatal mesenchyme
|
|
• intact E15.5 palatal shelves show decreased CDKN1B (cyclin dependent kinase inhibitor 1B) protein expression within the palatal mesenchyme, suggesting changes in cell proliferation
• a ~2-fold increase in the rate of proliferation of palatal shelf mesenchymal cells is seen at E14.5
• however, TUNEL analysis showed no changes in apoptosis at E14.5
|
|
• at E14.5, a significant increase in cell density is seen within the unfused shelves esp. in the lateral areas adjacent to the epithelium
• the extracellular area within the unfused palatal shelf tips is significantly reduced, suggesting less differentiated palatal mesenchyme
|
|
• at E16.5, formation of ossified palatal shelves is severely delayed or absent; however, bone marker analysis showed normal expression of Runx2, osterix, and osteocalcin
|
|
• although palatal shelves are always normally developed and positioned at E13.5 and lifted and apposed at E14.5, palatal shelf contact or fusion is often not observed
|
|
• despite increased cell density, palatal shelves are hypoplastic and fail to fuse
|
|
• 3 of 11 pups exhibit shortened soft palates that do not extend to the epiglottis
|
|
• 10 of 84 newborns exhibit a bilateral cleft of the secondary palate of variable severity
• however, cleft jaw and lip are never observed
|
|
• many pups exhibit a shortened, dysmorphic snout
|
|
• newborns with or without cleft palate show a consistently malformed basisphenoid bone
• patterning defects in the basisphenoid bone are already noted at E16.5
|
|
• newborns with or without cleft palate exhibit abnormal length and broadness of the pterygoid processes
|
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• newborns exhibit rib/sternum abnormalities (14 of 84)
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• rib defects are accompanied by irregular ossification of the sternum, likely due to incorrect rib attachment
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• newborns with or without cleft palate show rib/sternum malformations (14 of 84)
• rib defects involve different ribs among mutant mice and include fusions and bifurcations in the distal regions of the ribs unilaterally or bilaterally
• however, vertebral and appendicular skeleton, including digit patterning and rib attachment to vertebrae are normal
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• rib defects are detected at E13.5, when ossification has not begun, indicating abnormal outgrowth of the cartilaginous rib primordia
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• at E13.5, fusions are formed at the leading rib tips
|
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• at E14.5, the extracellular area within the unfused palatal shelf tips is significantly reduced, suggesting less differentiated palatal mesenchyme
|
|
• intact E15.5 palatal shelves show decreased CDKN1B (cyclin dependent kinase inhibitor 1B) protein expression within the palatal mesenchyme, suggesting changes in cell proliferation
• a ~2-fold increase in the rate of proliferation of palatal shelf mesenchymal cells is seen at E14.5
• however, TUNEL analysis showed no changes in apoptosis at E14.5
|
|
• at E14.5, a significant increase in cell density is seen within the unfused shelves esp. in the lateral areas adjacent to the epithelium
• the extracellular area within the unfused palatal shelf tips is significantly reduced, suggesting less differentiated palatal mesenchyme
|
|
• at E16.5, formation of ossified palatal shelves is severely delayed or absent; however, bone marker analysis showed normal expression of Runx2, osterix, and osteocalcin
|
|
• although palatal shelves are always normally developed and positioned at E13.5 and lifted and apposed at E14.5, palatal shelf contact or fusion is often not observed
|
|
• despite increased cell density, palatal shelves are hypoplastic and fail to fuse
|
|
• 3 of 11 pups exhibit shortened soft palates that do not extend to the epiglottis
|
|
• 10 of 84 newborns exhibit a bilateral cleft of the secondary palate of variable severity
• however, cleft jaw and lip are never observed
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• abnormally large islets with pleomorphic cells of variable size and shape are seen at 20 weeks of age
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• 6 of 33 homozygous floxed mutants had adenomas by the date of the scheduled autopsy and tumor incidence in homozygous mutants correlates to the level of Cre expression for the different cre transgenes
• a mild sex bias is seen with 3 of 12 virgin females developing adenomas compared to 3 of 21 males
• adenomas are detected by 44 weeks of age
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• fasting blood glucose levels are decreased
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• fasting serum insulin levels are increased
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• 6 of 33 homozygous floxed mutants had adenomas by the date of the scheduled autopsy and tumor incidence in homozygous mutants correlates to the level of Cre expression for the different cre transgenes
• a mild sex bias is seen with 3 of 12 virgin females developing adenomas compared to 3 of 21 males
• adenomas are detected by 44 weeks of age
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|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• heterozygous mutants develop islet tumors later than homozygous mutants
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• heterozygous mutants develop islet tumors later than homozygous mutants
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• abnormally large islets with pleomorphic cells of variable size and shape are seen at 4 weeks of age
• in 60 week old mutants islet volume has increased 20- to 26-fold
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• foci of adenoma develop within the hyperplastic islets by 20 - 28 weeks of age and multiple adenomas are seen by 23 weeks of age
• 19 of 34 homozygous floxed mutants had adenomas by the date of the scheduled autopsy and tumor incidence in homozygous mutants correlates to the level of Cre expression for the different cre transgenes
• a sex bias is seen with 13 of 16 virgin females developing adenomas compared to 6 of 18 males
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• fasting blood glucose levels are decreased
|
|
• fasting serum insulin levels are increased
|
|
• foci of adenoma develop within the hyperplastic islets by 20 - 28 weeks of age and multiple adenomas are seen by 23 weeks of age
• 19 of 34 homozygous floxed mutants had adenomas by the date of the scheduled autopsy and tumor incidence in homozygous mutants correlates to the level of Cre expression for the different cre transgenes
• a sex bias is seen with 13 of 16 virgin females developing adenomas compared to 6 of 18 males
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• heterozygous mutants develop islet tumors later than homozygous mutants
|
|
• heterozygous mutants develop islet tumors later than homozygous mutants
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• abnormally large islets with pleomorphic cells of variable size and shape are seen at 20 weeks of age
• in 60 week old mutants islet volume has increased 7-fold
|
|
• adenomas are detected by 30 weeks of age
• 3 of 26 homozygous floxed mutants had adenomas by the date of the scheduled autopsy and tumor incidence in homozygous mutants correlates to the level of Cre expression for the different cre transgenes
• a mild sex bias is seen with 2 of 13 virgin females developing adenomas compared to 1 of 13 males
|
|
• fasting blood glucose levels are decreased
|
|
• fasting serum insulin levels are increased
|
|
• adenomas are detected by 30 weeks of age
• 3 of 26 homozygous floxed mutants had adenomas by the date of the scheduled autopsy and tumor incidence in homozygous mutants correlates to the level of Cre expression for the different cre transgenes
• a mild sex bias is seen with 2 of 13 virgin females developing adenomas compared to 1 of 13 males
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• heterozygous mutants develop islet tumors later than homozygous mutants
|
|
• heterozygous mutants develop islet tumors later than homozygous mutants
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• all pups die by P1
|
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• skeletal staining revealed the absence of ossified palatal shelves
|
|
• newborns exhibit unfused palatal shelves
|
|
• all newborns exhibit a bilateral cleft of the secondary palate
|
| N |
• newborn pups do NOT exhibit rib or sternum defects
|
|
• skeletal staining revealed the absence of ossified palatal shelves
|
|
• newborns exhibit unfused palatal shelves
|
|
• all newborns exhibit a bilateral cleft of the secondary palate
|
|
• skeletal staining revealed the absence of ossified palatal shelves
|
|
• newborns exhibit unfused palatal shelves
|
|
• all newborns exhibit a bilateral cleft of the secondary palate
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• pups die at birth (14 of 36) or during the first postnatal day (P1)
|
|
• some newborns show a shortened palate in relation to the epiglottis, trachea and tongue
|
|
• 2 of 36 newborns exhibit a bilateral cleft of the secondary palate
|
|
• rib defects involve different ribs among mutant mice and include fusions and bifurcations in the distal regions of the ribs unilaterally or bilaterally
|
|
• some newborns show a shortened palate in relation to the epiglottis, trachea and tongue
|
|
• 2 of 36 newborns exhibit a bilateral cleft of the secondary palate
|
|
• some newborns show a shortened palate in relation to the epiglottis, trachea and tongue
|
|
• 2 of 36 newborns exhibit a bilateral cleft of the secondary palate
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice are viable and fertile and exhibit no detectable heart defects
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• enlarged parathyroid glands
• increased number of densely packed and disorganized follicular cells
|
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• significant increase in serum calcium level relative to littermates by 9 months of age
• no difference in serum glucose or creatine levels relative to littermates
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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 05/07/2024 MGI 6.23 |
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