Analysis Tools|
Allele Symbol Allele Name Allele ID |
Nf1+ wild type MGI:1857476 |
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| Summary |
39 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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Data Sources
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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IMPC - WTSI
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IMPC - WTSI
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IMPC - WTSI
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IMPC - WTSI
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• black pigmentation of the ears
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• excess pigment in a uniform and slanted stripe prominent over the volar pad at the base of the first digit; bluish-gray in color
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• black pigmentation of the tail
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• black pigmentation of the ears
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• excess pigment in a uniform and slanted stripe prominent over the volar pad at the base of the first digit; bluish-gray in color
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• black pigmentation of the tail
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• dark pigmentation of the tongue
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• dark pigmentation of the tongue
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• black pigmentation of the ears
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• black pigmentation of the ears
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• excess pigment in a uniform and slanted stripe prominent over the volar pad at the base of the first digit; bluish-gray in color
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• black pigmentation of the tail
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• dark pigmentation of the tongue
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• black pigmentation of the ears
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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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• bone marrow derived mast cells have about a 25% faster proliferation rate than controls when cultured for three days with SCF
• these mast cells also have a two-thirds higher migration rate towards SCF in transwell assays than controls
• a similar higher migration rate to the skin is observed in vivo when SCF is administered
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• the percent of degranulating mast cells in SCF-treated skin is almost 4 times that of controls
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• bone marrow derived mast cells have about a 25% faster proliferation rate than controls when cultured for three days with SCF
• these mast cells also have a two-thirds higher migration rate towards SCF in transwell assays than controls
• a similar higher migration rate to the skin is observed in vivo when SCF is administered
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• the percent of degranulating mast cells in SCF-treated skin is almost 4 times that of controls
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• the percent of degranulating mast cells in SCF-treated skin is almost 4 times that of controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 75% of mice develop tumors over 27 months, including lymphomas, leukemias, lung adenocarcinomas, hepatomas, fibrosarcomas, neurofibrosarcoma, and adrenal tumors
• mice develop similar types of tumors seen in patients with neurofibromatosis, but do not present any other classical features of the disease
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• some heterozygotes developed lymphoid leukemia and myeloid leukemia
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| NOT | neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:18542 |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• impairment in Morris Water Maze that was overcome with extensive training, however normal long term memory in cued fear conditioning test and normal nociception
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:38703 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• males exhibit disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the tubule lumen
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• males exhibit exfoliation of spermatocytes and immature (round and elongating) spermatids into the seminiferous tubule lumen, suggesting altered Sertoli-spermatocyte and Sertoli-spermatid junctions
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• all males show mild to moderate degeneration of seminiferous tubules, unlike wild-type control males
• mild alterations include detachment of the germinal epithelium from the basal lamina, vacuolation, and atypical residual bodies
• moderate alterations include disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the lumen
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• Leydig cell number is significantly lower than that in wild-type control males with no significant increase in interstitial space
• however, Sertoli cell number is relatively normal
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• testicular volume is significantly higher than that in wild-type control males
• however, seminiferous tubule area is relatively normal
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• caudal epididymal sperm counts are significantly higher than those of wild-type control males
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• males exhibit abnormal spermatids with enlarged heads, suggesting altered junctional dynamics
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• males exhibit abnormal spermatid morphology with enlarged heads and atypical residual bodies, suggesting lower sperm quality
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• the number of immature (round or elongated) spermatids is significantly higher than that in wild-type control males
• however, the total number of germ cells is relatively normal
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• males exhibit abnormal spermatid morphology associated with alterations in spermiation
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• when heterozygous males are crossed to wild-type females, the average litter size is ~50% lower than that produced from wild-type males crossed to heterozygous females (4.00 +/- 1.2 versus 8.67 +/- 0.76)
• however, the number of days between litters is not significantly altered
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• males are able to reproduce but exhibit significantly fewer pups per litter than wild-type control males
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• males exhibit disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the tubule lumen
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• males exhibit exfoliation of spermatocytes and immature (round and elongating) spermatids into the seminiferous tubule lumen, suggesting altered Sertoli-spermatocyte and Sertoli-spermatid junctions
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• all males show mild to moderate degeneration of seminiferous tubules, unlike wild-type control males
• mild alterations include detachment of the germinal epithelium from the basal lamina, vacuolation, and atypical residual bodies
• moderate alterations include disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the lumen
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• Leydig cell number is significantly lower than that in wild-type control males with no significant increase in interstitial space
• however, Sertoli cell number is relatively normal
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• testicular volume is significantly higher than that in wild-type control males
• however, seminiferous tubule area is relatively normal
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• males exhibit abnormal spermatids with enlarged heads, suggesting altered junctional dynamics
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• males exhibit abnormal spermatid morphology with enlarged heads and atypical residual bodies, suggesting lower sperm quality
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• the number of immature (round or elongated) spermatids is significantly higher than that in wild-type control males
• however, the total number of germ cells is relatively normal
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:269534 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice injected intraperitoneally with poly(I:C) at P8 to induce loss of Pten all die at 20 to 35 days of age
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• mice injected with poly(I:C) at P8 develop myeloproliferative neoplasm with clinical manifestations of Juvenile myelomonocytic leukemia at 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 exhibit reduced total cell numbers in bone marrow at 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 exhibit decreased hemoglobin 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 exhibit increased platelets 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 show a reduction in lymphocytes 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 show decreased B-cell (CD19+) populations in PB and spleen at 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 show decreased T-cell (CD3e+) populations in PB and spleen at 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 exhibit a modest elevation in white blood cells 2-3 weeks post poly(I:C) treatment
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• mice injected with poly(I:C) at P8 show an elevation in granulocytes in bone marrow, blood, and spleen 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 exhibit increased macrophages in bone marrow, blood, and spleen at 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 show an elevation in monocytes in bone marrow, blood, and spleen 2-3 weeks post induction
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• bone marrow of mice injected with poly(I:C) at P8 shows decreased hematopoietic progenitor cells, including LIN-, LIN-Sca1-1-, cKit+, and LIN-Sca1-1+cKit+, are decreased, with less apoptosis
• spleen of mice injected with poly(I:C) at P8 shows an increase in hematopoietic progenitor cells
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• mice injected with poly(I:C) at P8 show substantial monocyte/macrophage and granulocyte infiltration in the spleen at 2-3 weeks post induction
• spleen of mice injected with poly(I:C) at P8 shows an increase in hematopoietic progenitor cells
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• mice injected with poly(I:C) at P8 exhibit increased spleen size
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• mice injected with poly(I:C) at P8 exhibit increased spleen weight
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• mice injected with poly(I:C) at P8 show a reduction in lymphocytes 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 show decreased B-cell (CD19+) populations in PB and spleen at 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 show decreased T-cell (CD3e+) populations in PB and spleen at 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 exhibit a modest elevation in white blood cells 2-3 weeks post poly(I:C) treatment
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• mice injected with poly(I:C) at P8 show an elevation in granulocytes in bone marrow, blood, and spleen 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 exhibit increased macrophages in bone marrow, blood, and spleen at 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 show an elevation in monocytes in bone marrow, blood, and spleen 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 show substantial monocyte/macrophage and granulocyte infiltration in the spleen at 2-3 weeks post induction
• spleen of mice injected with poly(I:C) at P8 shows an increase in hematopoietic progenitor cells
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• mice injected with poly(I:C) at P8 exhibit increased spleen size
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• mice injected with poly(I:C) at P8 exhibit increased spleen weight
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• mice injected with poly(I:C) at P8 show substantial monocyte/macrophage infiltration in the liver at 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 exhibit increased liver size
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• mice injected with poly(I:C) at P8 exhibit increased liver weight
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• mice injected with poly(I:C) at P8 develop myeloproliferative neoplasm with clinical manifestations of Juvenile myelomonocytic leukemia at 2-3 weeks post induction
• recipient mice transplanted with bone marrow nucleated cells from mutants develop an indolent myelodysplastic syndrome or myeloproliferative neoplasm by 8 weeks posttransplantation
• mice injected with poly(I:C) at 6 weeks of age develop a transient myeloproliferative neoplasm after 3 weeks post induction and 1/7 transform to T-ALL
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• mice injected with poly(I:C) at 6 weeks of age develop a transient myeloproliferative neoplasm after 3 weeks post induction and 1/7 transform to T-ALL
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• mice injected with poly(I:C) at P8 show substantial monocyte/macrophage infiltration in the spleens, livers, and lungs at 2-3 weeks post induction
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• mice injected with poly(I:C) at P8 show increases in monocytes/macrophages and granulocytes in the bone marrow at 2-3 weeks post induction
• bone marrow of mice injected with poly(I:C) at P8 shows decreased hematopoietic progenitor cells, including LIN-, LIN-Sca1-1-, cKit+, and LIN-Sca1-1+cKit+, are decreased, with less apoptosis
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• mice injected with poly(I:C) at P8 exhibit increased liver size
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• mice injected with poly(I:C) at P8 exhibit increased liver weight
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• mice injected with poly(I:C) at P8 exhibit increased spleen size
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• mice injected with poly(I:C) at P8 exhibit increased spleen weight
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| juvenile myelomonocytic leukemia | DOID:0050458 |
OMIM:607785 |
J:232645 | |
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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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• 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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• gene-dose dependent increase in the number of astrocytes in the CA1 region of the hippocampus
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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 |
Nf1tm1Fcr/Nf1+ Tg(GFAP-cre)#Gtm/0 mice develop prechiasmatic optic nerve and chiasmal gliomas
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• cell proliferation in the optic nerve is increased compared to in wild-type mice
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• optic gliomas
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• kinking of the prechiasmatic optic nerves
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• enlarged
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• optic gliomas
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• kinking of the prechiasmatic optic nerves
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• enlarged
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• cell proliferation in the optic nerve is increased compared to in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most mice die before 3 months of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background
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• in mice with advanced tumors
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• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| malignant astrocytoma | DOID:3069 | J:64364 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• develop sarcomas and brain tumors as early as 15 weeks of age
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• mice that develop malignant tumors die by 26 weeks of age
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• 11 of 19 (57.9%) mice develop malignant tumors and die by 26 weeks of age
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• develop sarcomas and brain tumors as early as 15 weeks of age
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• develop sarcomas and brain tumors as early as 15 weeks of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background
• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
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• in mice with advanced tumors
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• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background
• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| malignant astrocytoma | DOID:3069 | J:64364 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background
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• in mice with advanced tumors
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• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| malignant astrocytoma | DOID:3069 | J:64364 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| malignant astrocytoma | DOID:3069 | J:64364 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 9% of mice develop melanocytic nevi
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• 80% of mice die by 400 days
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• 9% of mice develop melanocytic nevi
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• 10% of mice develop intestinal adenomas
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• 3% of mice develop hepatocellular carcinoma
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• 3% of mice develop neurofibromas
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• 23% of mice develop lymphoma
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• 32% of mice develop histiocytic sarcoma
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• 3% of mice develop schwannomas
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• 3% of mice develop neurofibromas
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• 3% of mice develop schwannomas
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• 10% of mice develop intestinal adenomas
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• 3% of mice develop hepatocellular carcinoma
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show a decrease in incidence of metastases compared to double Trp53 and Nf1 heterozygotes, with 19.44% of mice with sarcomas showing metastases compared to 29.4% of double mutants
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• mice show a decrease in incidence of sarcomas compared to double Trp53 and Nf1 heterozygotes, with 13.89% of mice developing soft tissue sarcomas compared to 59.5% of double mutants
• less proliferation is seen in tumors
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• 25% of mice exhibit splenic hyperplasia
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• 25% of mice exhibit splenic hyperplasia
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• 25% of mice exhibit splenic hyperplasia
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die by 150 days
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• 12% of mice develop lymphomas
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• 62% of mice develop histiocytic sarcomas
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• 38% of mice develop malignant peripheral nerve sheath tumors
• tumors develop on average at 2.3 months of age
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• 4% of develop angiosarcomas
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• 54% of mice develop high-grade gliomas
• gliomas develop on average at 3 months of age
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• 38% of mice develop malignant peripheral nerve sheath tumors
• tumors develop on average at 2.3 months of age
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• 54% of mice develop high-grade gliomas
• gliomas develop on average at 3 months of age
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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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• form by 6 months of age
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• form by 6 months of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• unlike other mice with at least one Nf1tm1Tyj allele, mice do not display malignant peripheral nerve sheath tumors or neurofibromas
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• hematopoietic neoplasms, especially lymphoma, are seen in some mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• virtually all mice die by 10 months of age
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• seen in some mice
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• significant frequency of hematopoietic neoplasms consisting mainly of lymphomas and histiocytic neoplasms with lower incidences of acute myeloid leukemias and myeloproliferative disease
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• developed in 26% of mice
• in most cases these tumors are grossly evident by 4 to 6 months of age
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| N |
• neural crest stem cells do not abnormally persist in the peripheral nervous system in adult mice
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• developed in 26% of mice
• in most cases these tumors are grossly evident by 4 to 6 months of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| malignant peripheral nerve sheath tumor | DOID:5940 | J:131914 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• seen at lower frequencies and greater age (over 1 year) compared to mice heterozygous for Nf1tm1Tyj and homozygous for Cdkn2atm2Rdp
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• seen at lower frequencies and greater age (over 1 year) compared to mice heterozygous for Nf1tm1Tyj and homozygous for Cdkn2atm2Rdp
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants exhibit a decreased latency and an increased incidence of tumors compared to single hemizygous Tg(Th-MYCN)41Waw mice, such that about 75% of mutants develop neuroblastomas by 10 months of age compared to 40% of single hemizygous Tg(Th-MYCN)41Waw mice
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• mutants exhibit a decreased latency and an increased incidence of tumors compared to single hemizygous Tg(Th-MYCN)41Waw mice, such that about 75% of mutants develop neuroblastomas by 10 months of age compared to 40% of single hemizygous Tg(Th-MYCN)41Waw mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neuroblastoma | DOID:769 | J:41126 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most mice die by 250 days
(J:217077)
• median survival time is 5-15 months
(J:228258)
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• 41.2% of mice exhibit splenic hyperplasia
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• metastases are seen in 29.4% of mice with sarcomas
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• 3% of mice develop lymphomas
(J:217077)
• mice develop lymphomas around 3-6 months of age
(J:228258)
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• 10% of mice develop histiocytic sarcomas
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• 8% of mice develop neuroblastoma
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• 59.5% of mice develop soft tissue sarcomas of the limbs and abdomen around 3-6 months of age
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• 67% of mice develop malignant peripheral nerve sheath tumors
• tumors develop on average at 150 days of age
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• 15% of mice develop high-grade glioma
• gliomas develop at approximately 200 days of age
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• 8% of mice develop neuroblastoma
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• 67% of mice develop malignant peripheral nerve sheath tumors
• tumors develop on average at 150 days of age
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• 15% of mice develop high-grade glioma
• gliomas develop at approximately 200 days of age
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• 41.2% of mice exhibit splenic hyperplasia
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• 41.2% of mice exhibit splenic hyperplasia
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• bone marrow derived mast cells proliferate at 60% the rate as controls when cultured for three days with SCF
• migration rates and degranulation of mast cells in response to SCF-treatment is similar to wild-type controls
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• bone marrow derived mast cells proliferate at 60% the rate as controls when cultured for three days with SCF
• migration rates and degranulation of mast cells in response to SCF-treatment is similar to wild-type controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• spatial learning impairment in Morris Water Maze Test, however normal long term memory in cued fear conditioning test and normal nociception
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:38703 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• die as early as 3 weeks of age
|
|
• develop tumors, primarily lymphomas
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• cis-double heterozygotes died at 15 weeks and trans-double heterozygotes died at 25 weeks
|
|
• developed in cis-double heterozygotes
|
|
• developed in cis-double heterozygotes
|
|
• developed in cis-double heterozygotes
|
|
• developed in cis-double heterozygotes
|
|
• developed in cis-double heterozygotes
|
|
• both cis- and trans-double heterozygotes developed sarcomas
|
|
• developed in cis-double heterozygotes
|
|
• developed in cis-double heterozygotes
|
|
• developed in cis-double heterozygotes
|
|
• developed in cis-double heterozygotes
|
|
• developed in cis-double heterozygotes
|
|
• developed in cis-double heterozygotes
|
|
• developed in cis-double heterozygotes
|
|
• developed in cis-double heterozygotes
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:58877 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• only 1 of 17 (5.9%) mice develop a tumor, a spindle cell tumor compared to 57.9% of double heterozygous Nf1 and Trp53 mutants; this mouse was sacrificed at 21 weeks of age
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutants exhibit similar diffuse nerve enlargement as in single Tg(Cnp-EGFR)10Nrat mice
|
|
• saphenous nerves are larger at 4 months of age compared to wild-type mice but similar in size to those in single Tg(Cnp-EGFR)10Nrat mice
|
|
• no tumors are detected compared to single Tg(Cnp-EGFR)10Nrat mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• cis-double heterozygotes die by 5 months of age and trans-double heterozygotes survive to the average age of 10 months
|
|
• cis-double heterozygotes exhibit greater incidence of tumors than trans-double heterozygotes
|
|
• developed in both cis- and trans-double heterozygotes
• sarcomas in trans-double heterozygotes were similar to those found in mice with either single mutation and were usually correlated with loss of one chromosome
|
|
• develop in cis-double heterozygotes, usually correlated with loss of one chromosome
|
|
• develop in cis-double heterozygotes, usually correlated with loss of one chromosome
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:58876 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background
|
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• in mice with advanced tumors
|
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• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| malignant astrocytoma | DOID:3069 | J:64364 | ||
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 03/18/2025 MGI 6.24 |
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