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Allele Symbol Allele Name Allele ID |
Tg(PLAT-cre)116Sdu transgene insertion 116, Sylvie Dufour MGI:3052515 |
| Summary |
11 genotypes |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice do not show skin lesions
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| N |
• mice do not show skin lesions in response to selective deletion in neural-crest derived cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• no parasympathetic precursors are detectable at E12.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• no further reduction in proprioceptive sensory neuron survival is observed (with deletion of Ntf3); numbers in L5 DRG are reduced similarly to that observed in Etv1-deficient, Ntf3-sufficient animals
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• while neuronal processes from segments of the E13.5 proximal midgut penetrate a collagen matrix in the presence of GDNF, the neuron cell bodies or glial cells do not as in the case of wild-type neurons
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• enteric neural crest cells exhibit an abnormal association with neuronal processes
• beginning at E12.5, enteric neural crest cells exhibit increased aggregation and form abnormal clusters that are depend on calcium mechanisms
• in culture, enteric neural crest cells form aggregates instead of forming scattered neuronal networks as do wild-type cells
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• in mutants a severe alteration of the neuronal network rostral to the migratory front in observed
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• bundles of extrinsic neurons innervate the aganglionic segments of the colon
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• majority of newborn mutants have a distended ascending colon and caecum
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• in conditional mutants from E11.5, enteric neural crest cells show a delay in colonization of the gut; difference in distance traveled by cells in mutants and controls increases with time
• neural crest cells from mutants fail to invade the hindgut, leading to an aganglionosis of the descending colon after birth
• however, the number of enteric neural crest cells, differentiation and radial distribution of enteric neural crest cells are normal
• when transplanted into wild-type mice, enteric neural crest cells only migrate 66.5% of the distance that wild-type cells migrate
|
|
• enteric neural crest cells exhibit an abnormal association with neuronal processes
• beginning at E12.5, enteric neural crest cells exhibit increased aggregation and form abnormal clusters that are depend on calcium mechanisms
• in culture, enteric neural crest cells form aggregates instead of forming scattered neuronal networks as do wild-type cells
|
|
• in conditional mutants from E11.5, enteric neural crest cells show a delay in colonization of the gut; difference in distance traveled by cells in mutants and controls increases with time
• neural crest cells from mutants fail to invade the hindgut, leading to an aganglionosis of the descending colon after birth
• however, the number of enteric neural crest cells, differentiation and radial distribution of enteric neural crest cells are normal
• when transplanted into wild-type mice, enteric neural crest cells only migrate 66.5% of the distance that wild-type cells migrate
|
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• while neuronal processes from segments of the E13.5 proximal midgut penetrate a collagen matrix in the presence of GDNF, the neuron cell bodies or glial cells do not as in the case of wild-type neurons
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Hirschsprung's disease | DOID:10487 |
OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644 |
J:108439 | |
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice display decreased responsiveness to radiant heat
|
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• mice display a chronic itch behavior (display frequent scratching episodes)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 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
|
|
• 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
|
|
• at P0, some bones of the skull vault, esp. the frontal bone, show significant surface reduction
|
|
• anterior fontanel is wide open at P0
|
|
• sphenoid alae show significant surface reduction
|
|
• squamous temporal bone shows significant surface reduction
|
|
• 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
|
|
• 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
|
|
• 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 |
|
• MAG+ oligodendrocytes are misplaced in the vicinity of the proprioceptive axonal shafts in the superficial dorsal horn unlike in wild-type mice
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• at P0, the proprioceptive axons are displaced into the neuropil of the dorsal spinal cord unlike in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• TrkA positive and aquaporin 1-positive axon projections and primordial layer architecture are similar to wild-type controls
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• number of proprioceptive sensory neurons in L5 DRG is not affected relative to controls
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 90% of mutants die within 1 month of birth
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• starting a few days after birth mutants develop progressive defects in motor function including an inability to climb on inclined surfaces or cling to a round bar
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• starting a few days after birth mutants develop progressive muscle atrophy
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• starting a few days after birth mutants develop progressive muscle weakness
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• at E13.5 and E14.5 the subcutaneous nerves in mutants were thinner with an abnormal arborization pattern
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• at E13.5 few or no Schwann cell precursors are seen in the distal part of the developing subcutaneous or muscular innervations however by E16.5 Schwann cell numbers have returned to normal
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• mutants have decreased intramuscular innervation
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• neuromuscular junctions in the abdominal, soleus, and gastrocnemius muscles and the diaphragm appear immature in mutants at P21
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• at E10.5 transient abnormalities including decreased vagus nerve roots, fusion of nerves IX and X, or absence of nerve IX are seen however by E11.5 cranial nerve patterning has resembles that in controls
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• at P1 the sciatic nerve is abnormally thin and becomes progressively thinner by P21
• mutants nerves contain myelinated motor axons and large clusters of unsorted axons of varying diameters with few myelinated sensory axons
• at P21 some extracellular matrix free regions are seen in mutants
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• only a few myelinated sensory axons are seen at P21 in the sciatic nerve
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutants show a 65-70% decrease in DRG neuron number at L2 levels compared to controls
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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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