Analysis Tools
nervous system
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• astrocytes transfected with a cre-expresing adenovirus exhibit increased proliferation compared to in control cells
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Allele Symbol Allele Name Allele ID |
Nf1tm1Par targeted mutation 1, Luis F Parada MGI:2176057 |
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| Summary |
28 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• astrocytes transfected with a cre-expresing adenovirus exhibit increased proliferation compared to in control cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in pIpC-treated mice with the same timing as in pIpC-treated Nf1tm1Par/Nf1tm1Par Tg(Mx1-cre)1Cgn mice
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• pIpC-treated mice develop myeloproliferative disorder with anemia unlike wild-type mice that is similar to in pIpC-treated Nf1tm1Par/Nf1tm1Par Tg(Mx1-cre)1Cgn mice
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• pIpC-treated mice develop myeloproliferative disorder with anemia unlike wild-type mice that is similar to in pIpC-treated Nf1tm1Par/Nf1tm1Par Tg(Mx1-cre)1Cgn mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most die as early as 10 weeks of age, and usually within a week of showing signs of morbidity
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• exaggerated startle response
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• gliomas from asymptomatic mutants are primarily classified as grade 3 astocytomas
• 5-fold higher growth rate of astrocytomas compared with tumors from transgenic mice heterozygous for Nf1tm1Par and Trp53tm1Tyj and hemizygous for Tg(GFAP-cre)25Mes
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• gliomas from asymptomatic mutants are primarily classified as grade 3 astocytomas
• 5-fold higher growth rate of astrocytomas compared with tumors from transgenic mice heterozygous for Nf1tm1Par and Trp53tm1Tyj and hemizygous for Tg(GFAP-cre)25Mes
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| malignant astrocytoma | DOID:3069 | J:134611 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• only 6 of 32 mice survived beyond 4 weeks of age
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| N |
• unlike mice crossed to Tg(P0-Cre)1Gth tumors are not seen in surviving adults
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• increase in the frequency of neural crest stem cells in the sympathetic chain and sciatic nerve, but not the gut, at E15 but not in surviving adults
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• increase in the frequency of neural crest stem cells in the sympathetic chain and sciatic nerve, but not the gut, at E15 but not in surviving adults
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants survive up to 8 weeks beyond initial appearance of symptoms
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• complete penetrance of malignant astrocytomas
• gliomas from asymptomatic mutants are primarily classified as grade 2 astocytomas
• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci
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• complete penetrance of malignant astrocytomas
• gliomas from asymptomatic mutants are primarily classified as grade 2 astocytomas
• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| malignant astrocytoma | DOID:3069 | J:134611 | ||
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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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• most die as early as 10 weeks of age, and usually within a week of showing signs of morbidity
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• exaggerated startle response
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• mutants develop astrocytomas
• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci
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• mutants develop astrocytomas
• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants survive up to 8 weeks beyond initial appearance of symptoms
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• exaggerated startle response
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• mutants develop astrocytomas
• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci
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• mutants develop astrocytomas
• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| malignant astrocytoma | DOID:3069 | J:134611 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• pups do not initiate normal respiration
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• increase in the number of adrenal medullary cells, suggesting pheochromocytoma
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• massively enlarged sympathetic ganglia that consist of axons that stain for neurofilament and small cell bodies with large nuclei that express tyrosine hydroxylase, a morphology consistent with ganglioneuroma or ganglioneurosarcoma
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• a thinning and distortion of the adrenal cortex
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• increase in the number of adrenal medullary cells, suggesting pheochromocytoma
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• develop tumors of neural crest origin such as ganglioneuroma, ganglioneurosarcoma, and pheochromocytoma
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| N |
• normal cardiac development
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:80323 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice injected intramuscularly with an adenovirus expressing cre recombinase (Ad-Cre) develop soft-tissue sarcomas in the region 3 to 12 months after cre exposure
• intramuscular injections of Ad-cre generates a spectrum of high-grade spindle cell sarcomas, including rhabdomyosarcoma and undifferentiated pleomorphic sarcoma
• tumors from both intramuscular and sciatic nerve Ad-Cre injected mice show significant infiltration of mast cells
• tumors arising from intramuscular Ad-Cre injection show higher proliferation than tumors arising from sciatic nerve Ad-Cre injection
• treatment of tumor cells isolated from intramuscularly Ad-Cre injected mice with the MEK inhibitor PD325901results in decreases colony-forming units and cell proliferation
• treatment of Ad-Cre intramuscularly injected mice with the MEK inhibitor PD325901 delays tumor growth, reduces proliferative index of tumors, and decreases CD31+ microvessel density but does not alter mast cell levels in tumors
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• intramuscularly Ad-Cre injected mice develop rhabdomyosarcoma
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• mice injected with Ad-Cre in the sciatic nerve develop malignant peripheral nerve sheath tumors in the region at a mean time of 4.1 months after cre exposure
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• intramuscularly Ad-Cre injected mice develop rhabdomyosarcoma
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• mice injected with Ad-Cre in the sciatic nerve develop malignant peripheral nerve sheath tumors in the region at a mean time of 4.1 months after cre exposure
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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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• 50% of pIpC treated mice die by 7.5 months of age
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• pIpC injected mice at 3 to 5 days of age develop overt signs of myeloproliferative disease beginning between 5 and 6 months of age
• pIpC injected mice show a shift in hematopoiesis from the marrow to the spleen
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• myeloid progenitors from pIpC injected mice show increased proliferation
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• spleen from pIpC injected mice shows a massive increase in myelopoiesis
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• apoptosis is reduced in the bone marrow of pIpC injected mice
• bone marrow from pIpC injected mice is highly cellular, comprised of myeloid cells at various stages of differentiation
• increase in numbers of immature monocytic cells in the bone marrow of pIpC treated mice
• bone marrow from pIpC injected mice contains elevated numbers of CFU-GM and an increase in the numbers of CFU-GM that are hypersensitive to granulocyte-macrophage colony stimulating factor (GM-CSF) and CFU-GM colonies are larger than normal and show abnormal spreading morphology
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• pIpC injected mice at 3 to 5 days of age exhibit elevated numbers of differentiated lymphoid cells by 3 months of age
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• pIpC injected mice at 3 to 5 days of age exhibit elevated leukocyte counts by 3 months of age
• cultures from pIpC injected mice show an increase in the percentage of monocyte-macrophage cells
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• pIpC injected mice show an increase in numbers of differentiated granulocytic cells
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• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal neutrophils by 3 months of age
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• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal lymphocytes by 3 months of age
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• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal monocytes by 3 months of age
• pIpC injected mice show an increase in numbers of immature monocytic cells in the bone marrow
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• pIpC injected mice at 3 to 5 days of age exhibit elevated numbers of differentiated myeloid cells by 3 months of age
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• spleens from pIpC injected mice contain large numbers of CFU-GM
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• pIpC injected mice at 3 to 5 days of age exhibit progressive splenomegaly with extensive infiltration of myeloid cells at various stages of maturation
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• pIpC injected mice at 3 to 5 days of age exhibit abnormal gait by 5-6 months of age
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• pIpC injected mice at 3 to 5 days of age exhibit hunching by 5-6 months of age
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• spleen from pIpC injected mice shows a massive increase in myelopoiesis
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• pIpC injected mice at 3 to 5 days of age exhibit elevated leukocyte counts by 3 months of age
• cultures from pIpC injected mice show an increase in the percentage of monocyte-macrophage cells
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• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal lymphocytes by 3 months of age
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• pIpC injected mice at 3 to 5 days of age exhibit elevated numbers of differentiated myeloid cells by 3 months of age
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• pIpC injected mice show an increase in numbers of differentiated granulocytic cells
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• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal neutrophils by 3 months of age
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• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal monocytes by 3 months of age
• pIpC injected mice show an increase in numbers of immature monocytic cells in the bone marrow
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• spleens from pIpC injected mice contain large numbers of CFU-GM
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• pIpC injected mice at 3 to 5 days of age exhibit progressive splenomegaly with extensive infiltration of myeloid cells at various stages of maturation
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• pIpC injected mice at 3 to 5 days of age have a disheveled appearance by 5-6 months of age
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• pIpC injected mice at 3 to 5 days of age exhibit progressive splenomegaly with extensive infiltration of myeloid cells at various stages of maturation
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| juvenile myelomonocytic leukemia | DOID:0050458 |
OMIM:607785 |
J:90973 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• significantly smaller than control littermates
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• significantly smaller than control littermates
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• reduction in liver Igf1 mRNA levels indicates a reduction in circulating growth hormone levels
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• pups do not initiate normal respiration
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• increase in the number of adrenal medullary cells, suggesting pheochromocytoma
|
|
• massively enlarged sympathetic ganglia that consist of axons that stain for neurofilament and small cell bodies with large nuclei that express tyrosine hydroxylase, a morphology consistent with ganglioneuroma or ganglioneurosarcoma
|
|
• a thinning and distortion of the adrenal cortex
|
|
• increase in the number of adrenal medullary cells, suggesting pheochromocytoma
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• develop tumors of neural crest origin such as ganglioneuroma, ganglioneurosarcoma, and pheochromocytoma
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| N |
• normal cardiac development
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:80323 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• gene-dose dependent increase in the number of astrocytes in the CA1 region of the hippocampus
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no mice survive beyond 3 months of age
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• the majority of pups fail to survive to weaning
• median survival is 18 days
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| N |
• brain weight is not significantly decreased and the major anatomical areas of the forebrain are not significantly different from controls
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• significantly smaller than control littermates
• however, the posterior lobe is similar in size to that in controls
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• 3-fold reduction in proliferating cells in the anterior lobe of the pituitary gland
• no change in proliferation in the posterior lobe
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• increases in the numbers of Olig2+ glial and BLBP+ neuroglial progenitors are seen throughout the brain
• expression analysis indicates abnormalities in development and differentiation of neocortical neurons
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• at 1 week of age, an increase in proliferating cells is seen in the CA2/3 region
• however, when normalized to the number of progenitor cellsno increase in the percentage of proliferating cells is detected
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• decrease in the distance between the corpus callosum and the brain surface in the secondary somatosensory cortex indicating a reduction in cortex thickness
• pre- and post-natal treatment with Rolipram restores normal somatosensory cortical thickness
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• increase in the number of NG2+ glial cells in the brain including the somatosensory cortex
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• increase in the number of GFAP+ astrocytes in the brain
• gene-dose dependent increase in the number of astrocytes in the CA1 region of the hippocampus
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• increase in the number of APC+ oligodendroglial cells in the brain including the fimbria
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• apical dendrites of layer II/III pyramidal neurons in the somatosensory cortex are shorter compared to littermate controls
• pre- and post-natal treatment with Rolipram partially restores neurite length
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• decrease in intracellular cAMP levels in the brain
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• increase in proliferation at E13.5 and to a lesser extent at E17.5 primarily in neuroglial progenitor cells
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• significant reduction in growth hormone and prolactin mRNA levels
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• 50% reduction in cAMP levels in hypothalamic homogenates
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• greater than 60% reduction in body weight compared to controls by 3 weeks of age
(J:138868)
• weigh about 30% of the weight of control littermates at 2 - 3 months of age
(J:138868)
• Rolipram treatment increases body weight but mice are still smaller than controls
(J:138868)
• at P18, weight is less than 50% that of control littermates
(J:139866)
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• severe growth retardation develops during the first week after birth
(J:138868)
• develop progressive growth retardation from P3
(J:139866)
• all major organ systems, except the central nervous system, display growth retardation at P18
(J:139866)
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• significantly smaller than control littermates
• however, the posterior lobe is similar in size to that in controls
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• 3-fold reduction in proliferating cells in the anterior lobe of the pituitary gland
• no change in proliferation in the posterior lobe
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• significant reduction in growth hormone and prolactin mRNA levels
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• decrease in growth hormone releasing hormone levels in the primary capillaries of the hypophyseal portal system
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• a 65% reduction in liver Igf1 mRNA levels indicates a reduction in circulating growth hormone levels
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• extreme sensitivity to handling
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• limited range of movement of the hindlimbs
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• increase in proliferation at E13.5 and to a lesser extent at E17.5 primarily in neuroglial progenitor cells
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:138868 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• body weight and size are about 50% of normal
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• 3-4 days after birth, mice begin to exhibit growth retardation that is sustained into adulthood
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• forebrain, but not the rest of the brain, is reduced in size, however mice exhibit normal neuronal development
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• increase in cell density in the cerebral cortex, often resulting in less apparent lamination
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• about 20% reduction in coritcal thickness
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• mice display astrogliosis in various brain regions, however do not develop neuronal degeneration or microgliosis
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• mice display severe learning disability
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| N |
• no evidence of tumors; optic gliomas, astrocytomas, or neurofibroma are not observed
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:68558 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• callus following fracture shows increased number of osteoclasts; most osteoclasts are localized within fibrous tissue and not on the bone surface as in controls
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• mutants exhibit delayed and defective fracture healing characterized by diminished cartilaginous callus formation, increased bone formation near the cortical bone on the periosteum but not in the fracture gap, and persistence of cartilage at day 21 such that bony bridging is not observed
• while total callus volume following fracture is larger in mutants at day 7 and 10 due to rapid initial growth of fibrous tissue (desmal type ossification), by day 14 and 21, the total callus volume is significantly smaller
• accumulation and persistence of fibrous tissue in the fracture gap, with increased numbers of osteoclasts
• increase in number of blood vessels in mutant fractures (in callus) compared to controls, indicating increased vascularization of the fracture tissue, however no osteogenesis results from this increased vascularization
• ectopic fat tissue is seen in the fracture site
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• decrease of regenerative tissue bone mineral density following fracture
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• dramatic cortical bone thickening following fracture
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• fewer osteoblasts are seen within the fracture gap throughout healing compared to controls, however, osteoblast number is increased at the periosteal surface
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• bone fractures exhibit impaired cartilage formation and increased periosteal ossification at the cortices
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• presence of large areas of non-mineralized osteoid in the fracture gap, indicating decreased mineralization of the extracellular matrix
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• thickening of the osteoid layer in the periosteal region following fracture
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• endochondrial formation is impaired following fracture but periosteal bone formation is enhanced
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• bones are weaker; femora show lower torsional stiffness and ultimate torque at failure compared to controls
• fractured bones of mutants that are allowed to heal also exhibit a lower torsional stiffness and ultimate torque at failure compared to controls
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• mutants exhibit delayed and defective fracture healing characterized by diminished cartilaginous callus formation, increased bone formation near the cortical bone on the periosteum but not in the fracture gap, and persistence of cartilage at day 21 such that bony bridging is not observed
• while total callus volume following fracture is larger in mutants at day 7 and 10 due to rapid initial growth of fibrous tissue (desmal type ossification), by day 14 and 21, the total callus volume is significantly smaller
• accumulation and persistence of fibrous tissue in the fracture gap, with increased numbers of osteoclasts
• increase in number of blood vessels in mutant fractures (in callus) compared to controls, indicating increased vascularization of the fracture tissue, however no osteogenesis results from this increased vascularization
• ectopic fat tissue is seen in the fracture site
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• callus following fracture shows increased number of osteoclasts; most osteoclasts are localized within fibrous tissue and not on the bone surface as in controls
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• callus following fracture shows increased number of osteoclasts; most osteoclasts are localized within fibrous tissue and not on the bone surface as in controls
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:193350 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• weight is on average reduced by 25%
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• short-limbed dwarfism, with mutants showing a reduction in entire limb size
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• mutants exhibit muscle dystrophy
• large areas of dystrophic musculature are occupied by fat tissue
• muscle connective tissue shows increased proliferation at E14.5 and an increase in connective tissue in muscles is already seen at E16.5
• muscle fibers are thinned out at E16.5
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• marker analysis indicates a defect in muscle formation at E13.5, with specific muscle primordial reduced in size or entirely missing; approximate 30% reduction in the m. triceps size and about 50% reduction in the m. gluteus maximus size of E13.5 embryos
• the m. latissimus dorsi appears smaller and shows rarefaction of muscle fibers
• distal muscle groups in the extremities are most affected, with some muscles completely missing, indicating that the muscle differentiation process is disturbed
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• defect in myogenesis affecting the terminal differentiation of myoblasts between E12.5 and E14.5
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• maker analysis indicates a severe disruption of myoblast terminal differentiation
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• marker analysis indicates that migration and proliferation of pre-muscle cells at E11.5 are normal but increased proliferation of myoblasts in ventral muscle masses is seen
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• muscles show a 20% increase in the number of fibers with cleft-like invaginations (split fibers)
• muscle fiber size appears more variable than in controls, however no overt muscle regeneration is seen
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• total number of muscle fibers is reduced by 50% in the triceps
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• weight of triceps muscle is reduced by more than 50%
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• reduction in muscle size and mass
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• generalized muscle fibrosis, characterized by expansion of collagen-rich connective tissue, and reduction in total number of muscle fibers
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• in the force gauge pull test, mice show a dramatic reduction in muscle force
• satellite cells exhibit normal self-renewal but impaired differentiation as indicated by diminished myotube formatio
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• maker analysis indicates a severe disruption of myoblast terminal differentiation
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• marker analysis indicates that migration and proliferation of pre-muscle cells at E11.5 are normal but increased proliferation of myoblasts in ventral muscle masses is seen
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:173779 | |
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• pups do not initiate normal respiration
|
|
• increase in the number of adrenal medullary cells, suggesting pheochromocytoma
|
|
• massively enlarged sympathetic ganglia that consist of axons that stain for neurofilament and small cell bodies with large nuclei that express tyrosine hydroxylase, a morphology consistent with ganglioneuroma or ganglioneurosarcoma
|
|
• a thinning and distortion of the adrenal cortex
|
|
• increase in the number of adrenal medullary cells, suggesting pheochromocytoma
|
|
• develop tumors of neural crest origin such as ganglioneuroma, ganglioneurosarcoma, and pheochromocytoma
|
| N |
• normal cardiac development
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:80323 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 8 of 11 embryos exhibit a thinned myocardium
|
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• 8 of 11 embryos show an enlarged atrioventricular cushion
|
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• seen in 8 of 11 embryos
|
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• 10 of 11 embryos exhibit ventricular septal defects
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• 8 of 11 embryos exhibit a thinned myocardium
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• pups die at birth
|
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• medulla is overgrown compared with wild-type
|
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• peripheral ganglia are massively enlarged in newborns
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at 9 months of age, mutants have significantly more microglia than controls; microglia are in the optic gliomas
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• at 9 months of age, mutants have significantly more microglia than controls; microglia are in the optic gliomas
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• at 9 months of age, mutants have significantly more microglia than controls; microglia are in the optic gliomas
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• mice develop optic gliomas in the optic chiasm/nerves
• optic gliomas appear as gross thickenings and enlargements of the pre-chiasmic nerve at 9 months of age
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• irregularly shaped and thickened astrocytes are seen in the pre-chiasmatic optic nerves
|
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• retinal ganglion cell loss in the middle and peripheral region
|
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• optic gliomas form in the pre-chiasmatic optic nerve/optic chiasm, with increased vascularization to the area, abnormally shaped and thickened astrocytes, increase in microglia, and axonal and myelin degeneration
• mice exhibit abnormal optic nerve axon organization
|
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• the optic chiasm/nerves at 9 months of age appear as gross fusiform enlargements that result in optic gliomas
• increase in vascularization in the pre-chiasmatic optic nerve and optic chiasm (and in the optic glioma)
|
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• axonal and myelin degeneration are seen in the optic nerve
|
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• increase in neoplastic astrocyte proliferation in the optic glioma
|
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• disruption of the myelin is seen in the optic nerve, including degeneration and hypermyelination
|
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• hypermyelination is seen in the optic nerve
|
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• mice develop optic gliomas in the optic chiasm/nerves
• optic gliomas appear as gross thickenings and enlargements of the pre-chiasmic nerve at 9 months of age
|
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• retinal ganglion cell loss in the middle and peripheral region
|
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• optic gliomas form in the pre-chiasmatic optic nerve/optic chiasm, with increased vascularization to the area, abnormally shaped and thickened astrocytes, increase in microglia, and axonal and myelin degeneration
• mice exhibit abnormal optic nerve axon organization
|
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• the optic chiasm/nerves at 9 months of age appear as gross fusiform enlargements that result in optic gliomas
• increase in vascularization in the pre-chiasmatic optic nerve and optic chiasm (and in the optic glioma)
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:165209 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 2 embryos are found at later stages, after expected midgestation lethality from cardiovascular failure
|
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• mice display moderate splenic enlargement and partial rescue of splenic architecture
• germinal centers are present
• splenic fibrosis is not observed
|
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• mice display moderate splenic enlargement and partial rescue of splenic architecture
• germinal centers are present
• splenic fibrosis is not observed
|
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• marked enlargement of dorsal root ganglia and other neural crest derived tissues is observed
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• normal splenic architecture is lost
|
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• mice show markedly enlarged spleens due to overgrowth of granulocytic precursors
|
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• germinal centers are absent
|
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• splenic fibrosis is observed
|
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• normal splenic architecture is lost
|
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• mice show markedly enlarged spleens due to overgrowth of granulocytic precursors
|
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• germinal centers are absent
|
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• splenic fibrosis is observed
|
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• mice show markedly enlarged spleens due to overgrowth of granulocytic precursors
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increase in the frequency of neural crest stem cells in the sympathetic chain, dorsal root ganglia, and sciatic nerve at E13 but not at E17 to E19
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• increase in the frequency of neural crest stem cells in the sympathetic chain, dorsal root ganglia, and sciatic nerve at E13 but not at E17 to E19
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• neural crest stem cells do not abnormally persist in the peripheral nervous system in adult mice
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• at 15 - 20 months of age, all 6 mice examined had plexiform neurofibromas compared to 0 fibromas in control littermates
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• at 15 - 20 months of age, all 6 mice examined had plexiform neurofibromas compared to 0 fibromas in control littermates
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• partial rescue of apoptosis in the spinal cord compared to mice null for Rnf7 alone
• rescue of neuronal apoptosis compared to mice null for Rnf7 alone
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• decrease in proliferation of neuronal precursor cells in the neocortex
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• partial restoration of angiogenesis in the head compared to mice null for Rnf7 alone
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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 04/09/2024 MGI 6.23 |
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