Analysis Tools|
Allele Symbol Allele Name Allele ID |
Olig2+ wild type MGI:2438768 |
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| Summary |
24 genotypes
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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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• about 70% of mutants survive to about 12 months of age
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• about 30% of mutants die before 12 months of age
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• by the second day after birth, mutants show a 15% decrease in weight compared to controls
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• mutants exhibit reduced grip strength, indicating weakness
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• reduced muscle mass
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• average size of mutant fibers is larger than controls
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• muscle fiber loss occurs after P7
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• atrophic fibers are seen in proximal (triceps) and distal (gastrocnemius) muscles
• small but significant proportion of muscle fibers exhibit centrally located nuclei, suggesting an ongoing regenerative process in muscle
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• in an impaired righting ability test, mutants are noticeably weaker by postnatal day 2
• impaired righting reflex gradually subsides so that by the end of the second week of life, differences between mutants and controls are no longer seen
• however mutants continue to display weakness as adults
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• neonates exhibit a reduction of vGlut1 bouton numbers and their areas on motor neurons and a reduction of the total numbers of puncta in the ventral horn, indicating an aberration in the projection of proprioceptive sensory neurons onto ventral horns
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• by P40, mutants exhibit an approximate 40% and 25% reduction in cervical and lumbar motor neurons, respectively
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• the number of boutons juxtaposed against ChAT-positive motor neurons is reduced
• mean area of these synaptic boutons is reduced, suggesting an alteration in the synaptic coverage of the ventral horn motor neurons by Ia sensory terminals
• at the presynapse, neurofilament aggregates infiltrate nerve terminals and terminal arbors are swollen
• abnormal amounts of neurofilament protein persist in the nerve terminals of both proximal and distal muscles
• abnormal localization of synaptic vesicles in mutant terminals at P8 but no longer visible at P12
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• NMJs in the triceps muscle are smaller, misshapen, and less mature than in controls or in mutant gastrocnemius muscle, indicating delayed maturation
• fragmented NMJs are seen in both triceps and gastrocnemius muscles
• at the postsynapse, more than 75% of gastrocnemial acetylcholine receptor clusters attain the normal pretzel-like conformation, but more than half of them appear fragmented and are measurably larger than in control NMJs
• acetylcholine receptor clusters of the triceps fail to attain the level of complexity as gastrocnemial muscle
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• mutants exhibit severe defects of neuromuscular transmission at P8 but these defects are attenuated by P12 as disease progresses
• at P8, 100 Hz nerve stimulation of muscle is only able to produce 34% of the tension produced by direct muscle stimulation compared to 72% in controls, indicating that many junctions fail to active muscle fibers to threshold[?]
• at 100 Hz asynchronous release of calcium disappears at mutant NMJs undergoing numerous failures, suggesting there is little calcium entry into the nerve terminals during these events
• at P8, a decrease in the mean quantal content of the mutant junctions compared with controls, but at P10 and P12 mutant NJMs, the quantal content increases to control levels
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• mean mEPP amplitude at mutant NMJs is 50-100% greater than at control junctions at P8, P10 and P12
• semitendinosus muscle of 3 month old mutants shows an increase in mEPP amplitude despite a decrease in input resistance, indicating that neuromuscular transmission defects persist at the NMJs of adults
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Werdnig-Hoffmann disease | DOID:13137 |
OMIM:253300 |
J:164292 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice survive 33 days
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• mice develop focal medulloblastomas localized to the posterior-lateral lobes and have mean survival of 33 days
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• mice develop focal medulloblastomas localized to the posterior-lateral lobes and have mean survival of 33 days
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| medulloblastoma | DOID:0050902 |
OMIM:155255 |
J:139574 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal oligodendrocyte myelination
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal motor coordination and general activity levels/gross motor activity
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• however, no increase in apoptosis was noted
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• reduced proliferation of oligodendrocyte precursors due to delayed cell cycle exit
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• reduced number of myelinated optic nerves and in the corpus callosum
• reduced thickness of myelin wrap
• however, the distribution of axon diameters in the optic nerve is normal
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• however, no increase in apoptosis was noted
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• reduced proliferation of oligodendrocyte precursors due to delayed cell cycle exit
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal ventral neuron numbers in the spinal cord
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• however, neuron number is normal
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• increased signal density on MRIs
• hypomyelination in the corpus callosum at 4 weeks of age and in adults
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 2-fold increase in the number of oligodendroglial cells in the ventral brainstem at P7 and P21
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• 2-fold increase in the number of oligodendroglial cells in the ventral brainstem at P7 and P21
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most mice succumb to spontaneous brain tumors, with a median survival of 419 days
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• tumors are high-grade diffuse gliomas
• tumors often infiltrate throughout many parts of the brain, particularly in the midbrain and thalamic regions
• tumors express markers of oligodendroglial origin
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• most mice succumb to spontaneous brain tumors, with a median survival of 419 days
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• tumors are high-grade diffuse gliomas
• tumors often infiltrate throughout many parts of the brain, particularly in the midbrain and thalamic regions
• tumors express markers of oligodendroglial origin
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| brain glioma | DOID:0060108 | J:285841 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most mice succumb to spontaneous brain tumors
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• tumors are high-grade diffuse gliomas
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• most mice succumb to spontaneous brain tumors
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• tumors are high-grade diffuse gliomas
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| brain glioma | DOID:0060108 | J:285841 | ||
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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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| ♀ | 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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• 2-fold decrease in ventral oligodendrogenesis in the prepontine (rhombomere 2- and 3-derived) and pontine (rhombomere 4-derived) territories compared with controls
• however, migration of oligodendrite progenitor cells is normal
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• decrease in ventral oligodendrogenesis in the prepontine (rhombomere 2- and 3-derived) and pontine (rhombomere 4-derived) territories at E13.5 due to reduced proliferation
• however, ventricular progenitors are recovered following additional cell cycle before differentiation
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• decrease in ventral oligodendrogenesis in the prepontine (rhombomere 2- and 3-derived) and pontine (rhombomere 4-derived) territories at E13.5 due to reduced proliferation
• however, ventricular progenitors are recovered following additional cell cycle before differentiation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice survive until E10.5 and E13.5
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| N |
• mice exhibit normal lumbar motor column neuron specification, lateral migration, and segregation
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• some motor neurons fail to migrate away from the ventricular zone unlike in control mice
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• in the spinal cord medial motor column
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• mice exhibit a 2.5-fold increase in En1+ V1 interneurons and 3-fold increase in Chx10+ V2a interneurons compared to in control mice
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• mice exhibit a 3-fold increase in Chx10+ V2a interneurons compared to in control mice
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• at E11.5, mice exhibit intermixing of medial and lateral lumbar motor column neurons unlike in control mice
• at E13.5, preganglionic column neurons are scattered in ectopic ventral position unlike in control mice
• mice exhibit disorganization of intrasegmental neuron pools compared with control mice
• however, organization of rostro-caudal neurons are normal
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• Foxp1+ neurons are less densely packed than in control mice
• however, overall neuron packing is normal
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• reduced number of neurons
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• some motor neurons fail to migrate away from the ventricular zone unlike in control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice only survive until E14.5
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• at E14.5, motor neuron dendrite length and primary branch number are reduced 2- to 3-fold compared with control dendrites
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• partial early postnatal lethality
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• some mice fail to gain normal body weight and die before weaning
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• surviving mice show spasms when disrupted during rest
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• glial cells exhibit increased growth
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• marker analysis indicates the differentiation of oligodendroglial lineage cells is blocked and neuroglial progenitors are upregulated
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• higher density of PDGFRA+ cells in brainstems
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• glial cells exhibit increased growth
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die during third postnatal week
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| N |
• gross CNS architecture is normal
• motor neuron population in spinal cord is intact
• peripheral nerves are fully myelinated
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• at P13, optic nerve axons show almost no myelination in contrast to wild-type controls where about 50% of axons are myelinated
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• severe loss of myelin basic protein (immunostaining) is observed in spinal cord at P13, but spinal root myelination (myelinated by Schwann cells) is normal
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• essentially complete loss of myelination in CNS white matter tracts is observed at P13
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• at P13, optic nerve axons show almost no myelination in contrast to wild-type controls where about 50% of axons are myelinated
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in the spinal cord medial motor column
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• reduced number of neurons
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• normal medial motor column (MMC) and hypaxial motor column (HMC) development at age E12.5
• normal proliferation of neural stem cells and overall spinal cord dorsal-ventral patterning at age E12.5
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• at age E12.5
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• ~30% decrease in LMCm (medial) and LMCl (lateral) neurons at age E12.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• approximately 60% of females fail to differentiate between familiar and novel objects in the object recognition test
• more than 60% of male and approximately 80% of females fail to differentiation between familiar and novel objects in object placement test
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• more than 60% of male and approximately 80% of females fail to differentiation between familiar and novel objects in object placement test
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• males exhibit a reduction in the magnitude of the startle reflex at all stimulus intensities
• females exhibit a trend in reduced startle reflex at lower stimuli and significant reduction at 115 dB
• both males and females show a delay to elicit a startle reflex at 115 dB
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• in the Hargreaves test of reflex response to thermal sensation, mice show normal increased latency for hind paw withdrawal as a function of stimulus intensity, however the relative response is delayed at lower intensities for males and at all intensities for females, suggesting an impaired sensation and reflex response
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• mice show a delay in achieving developmental milestones such as deficits in body-righting mechanisms, strength, coordination, locomotion and the extinguishing of pivoting behavior
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• smaller body size throughout adolescence, with males showing decreased size at 3, 4, and 5 weeks of age and females at 4 and 5 weeks of age
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• adults exhibit decreased body weight; body weight difference is maintained in males and is enhanced in females between 3 and 5 weeks of age and differences in body weight are seen at 12 and 16 weeks of age
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• mice show reduced weight gain after birth, with body weight difference that is more pronounced in males and increases over time from P5 to P21, in contrast to females that maintain a relatively constant and smaller body weight difference
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• adolescent and adult mice exhibit reduced numbers of myelinating oligodendrocytes
• adolescent males show a reduction in O4 and MOG double-positive premyelinating- oligodendrocytes while females show only a trend in this reduction
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• reduced myelin thickness is seen across a range of axon calibers, indicating a defect in the capacity of mature oligodendrocytes to produce a myelin sheath of normal thickness
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• reduction in the size of the white matter tract due to the projection of the ventral horns into the ventrolateral funiculus
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• myelin sheath thickness is reduced as indicated by a higher average g-ratio
• reduced myelin thickness is seen across a range of axon calibers
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• impaired myelination in adolescent and adult mice with hypomyelination in the corpus callosum splenium, hippocampus, and cerebral cortex, and in the ventral and dorsal horns of the spinal cord and a small reduction in the thymus of adolescent mice but not adults
• however, no differences in myelination in the cerebellum and in Purkinje cell number
• fractional anisotropy is reduced in the anterior commissure, corpus callosum genu and splenium, and the optic tract due to increased radial diffusivity in the absence of effects on axial diffusivity, suggesting a myelin deficiency in these regions
• the optic nerve shows no change in fractional anisotropy but reduced radial diffusivity, axial diffusivity, and mean diffusivity
• mice show an increase in the number of unmyelinated axons with cross-sectional axons greater than the smaller myelinated axons in wild-type mice
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• adolescent and adult mice exhibit reduced numbers of myelinating oligodendrocytes
• adolescent males show a reduction in O4 and MOG double-positive premyelinating- oligodendrocytes while females show only a trend in this reduction
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• reduced myelin thickness is seen across a range of axon calibers, indicating a defect in the capacity of mature oligodendrocytes to produce a myelin sheath of normal thickness
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hypomyelinating leukodystrophy 7 | DOID:0060794 |
OMIM:607694 |
J:311745 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die between E15.5 and P0
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• mice die between E15.5 and P0
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• migration and settling of preganglionic neurons in the intermediate spinal cord is defective compared to in control mice
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• migration and settling of preganglionic neurons in the intermediate spinal cord is defective compared to in control mice
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• mice exhibit a 2-fold increase in mixing of medial and lateral lumbar motor column compared with control mice
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• migration and settling of preganglionic neurons in the intermediate spinal cord is defective compared to in control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• axonal projections of Ia afferents do not reach the spinal cord in E15.5 homozygotes
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• cleaved Casp3-positive (apoptotic) neurons are significantly elevated in number in dorsal root ganglia at E10.5 compared to control embryos
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• number of TrkC- or Runx3-positive proprioceptive neurons is decreased in the DRGs at E13.5 compared to heterozygous controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• normal proprioceptive sensory axonal projection to the ventral spinal cord
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• decrease in monosynaptic sensory-motor connections from sensory neurons innervating the hamstring knee flexor muscle
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• number of boutons on the soma of motor neurons innervating the hamstring knee flexor muscle are reduced while the density of boutons in the vicinity remains normal
• normal vGlut+ boutons on Glu motor neurons
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• mean amplitudes of the monosynaptic EPSPs in motor neurons innervating the hamstring knee flexor muscle are reduced comparing to wild-type
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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 10/06/2026 MGI 6.29 |
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