Analysis Tools|
Allele Symbol Allele Name Allele ID |
Ezh2tm2Sho targeted mutation 2, Stuart Orkin MGI:3823217 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• hypertrabeculation
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• hypertrabeculation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• lower percentage of CC1+ differentiating oligodendrocytes amongst Olig2+ oligodendrocytes in brain at age P7
• lower number of Mbp+ mature oligodendrocytes in brain at age P7
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• reduced myelination of axons in optic nerves at age P15
• thinner myelin sheaths around axons in optic nerves at age P15
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• development of the palatine processes of the maxilla and palatine bones and proliferation and differentiation of palatal mesenchymal cells are restored by conditional deletion of one copy of Ezh2 compared to mutant mice with wild-type Ezh2
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• conditional deletion of one copy of Ezh2 rescues cleft palate with 70% efficiency
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• conditional deletion of one copy of Ezh2 rescues cleft palate with 70% efficiency
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• conditional deletion of one copy of Ezh2 rescues cleft palate with 70% efficiency
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• number of uterine natural killer cells is reduced in E8.5 decidual basalis
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• at 8 months of age, the endometrium shows pathological changes resembling human endometrial hyperplasia
• however, the myometrial layers remain intact
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• at 8 months of age, cystic dilation of endometrial glands containing eosin-stained substance is observed
• endometrial glands are variable in size and some contain stratified epithelial layers with nuclear atypia in some cases
• FOXA2 expression is reduced or partially lost in some glands at 2 months of age
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• a slight level of endometrial gland crowding is noted in discrete regions, with intervening uterine stroma among glands shown to be sparse
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• at 5 to 8 months of age, endometrial hyperplasia is observed in nulliparous female mice
• Ki-67 staining is increased in some abnormal endometrial glands or cystic glandular structures
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• weight of uterine horns is increased, even at 1 month of age (before sexual maturity)
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• at 1 and 2 months of age, uterus shows focal expression of basal cell markers KRT14 and TRP63 in a cell layer beneath luminal and/or glandular epithelial cells indicating focal formation of stratified uterine epithelium, unlike in wild-type uteri
• by 8 months of age, epithelial stratification is more extensive as shown by the presence of cells positively staining for KRT14, KRT5, KRT6A, and TRP63
• partial loss of FOXA2 expression is observed in the glandular epithelia at 2 months and no FOXA2 expression is detected in KRT14+ epithelial cells lining the luminal/glandular epithelia at 8 months
• basal-like epithelial cells (KRT14+ but KRT8-) lining some KRT8+ epithelial cells are detected at 8 months, and mRNA expression of basal cell markers is increased in uterine epithelia isolated at 1 month of age, indicating production of basal-like epithelial cells or a cell population expressing basal markers in the uterus
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• females display parturition defects
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• females mated with fertile males for a period of 6 months yield a decreased number of litters and litter size relative to controls
• however, blastocysts can be retrieved from uteri at ~E3.5 and implantation sites can be found at E8.5
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• females mated with fertile males produce a smaller litter size than controls
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• number of uterine natural killer cells is reduced in E8.5 decidual basalis
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• number of uterine natural killer cells is reduced in E8.5 decidual basalis
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• at 8 months of age, cystic dilation of endometrial glands containing eosin-stained substance is observed
• endometrial glands are variable in size and some contain stratified epithelial layers with nuclear atypia in some cases
• FOXA2 expression is reduced or partially lost in some glands at 2 months of age
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• a slight level of endometrial gland crowding is noted in discrete regions, with intervening uterine stroma among glands shown to be sparse
|
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• number of uterine natural killer cells is reduced in E8.5 decidual basalis
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• number of uterine natural killer cells is reduced in E8.5 decidual basalis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice treated with pIpC to induce cre expression develop spontaneous T-cell leukemia (T-ALL), with a latency of development of 122-281 days following pIpC treatment
• leukemic cells infiltrate the bone marrow, spleen, liver, and kidney infiltrates comprise a mixture of mature lymphoid cells with open chromatin and cells with blastic appearance and prominent nucleoli
• leukemias are phenotypically heterogenous
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• 7-8 week old mice treated with pIpC to induce cre expression exhibit a 7-10-fold decrease in the numbers of thymocytes
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• mice treated with pIpC to induce cre expression exhibit an enlarged spleen
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• 7-8 week old mice treated with pIpC to induce cre expression exhibit an accumulation of immature CD4-CD8- cell population
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• 7-8 week old mice treated with pIpC to induce cre expression exhibit a decrease in CD4+CD8+ cells
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• mice treated with pIpC to induce cre expression exhibit enlarged lymph nodes
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• 7-8 week old mice treated with pIpC to induce cre expression exhibit a 7-10-fold decrease in the numbers of thymocytes
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• mice treated with pIpC to induce cre expression exhibit an enlarged spleen
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• 7-8 week old mice treated with pIpC to induce cre expression exhibit an accumulation of immature CD4-CD8- cell population
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• 7-8 week old mice treated with pIpC to induce cre expression exhibit a decrease in CD4+CD8+ cells
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• 7-8 week old mice treated with pIpC to induce cre expression exhibit a 7-10-fold decrease in the numbers of thymocytes
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• mice treated with pIpC to induce cre expression exhibit an enlarged spleen
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| acute lymphoblastic leukemia | DOID:9952 |
OMIM:247640 OMIM:613065 |
J:182211 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice treated with pIpC to induce cre expression develop spontaneous T-cell leukemia (T-ALL), with a latency of development of 122-281 days following pIpC treatment
• leukemic cells infiltrate the bone marrow, spleen, liver, and kidney infiltrates comprise a mixture of mature lymphoid cells with open chromatin and cells with blastic appearance and prominent nucleoli
• leukemias are phenotypically heterogenous
|
|
• 7-8 week old mice treated with pIpC to induce cre expression exhibit a 7-10-fold decrease in the numbers of thymocytes
|
|
• mice treated with pIpC to induce cre expression exhibit an enlarged spleen
|
|
• 7-8 week old mice treated with pIpC to induce cre expression exhibit an accumulation of immature CD4-CD8- cell population
|
|
• 7-8 week old mice treated with pIpC to induce cre expression exhibit a decrease in CD4+CD8+ cells
|
|
• mice treated with pIpC to induce cre expression exhibit enlarged lymph nodes
|
|
• 7-8 week old mice treated with pIpC to induce cre expression exhibit a 7-10-fold decrease in the numbers of thymocytes
|
|
• mice treated with pIpC to induce cre expression exhibit an enlarged spleen
|
|
• 7-8 week old mice treated with pIpC to induce cre expression exhibit an accumulation of immature CD4-CD8- cell population
|
|
• 7-8 week old mice treated with pIpC to induce cre expression exhibit a decrease in CD4+CD8+ cells
|
|
• 7-8 week old mice treated with pIpC to induce cre expression exhibit a 7-10-fold decrease in the numbers of thymocytes
|
|
• mice treated with pIpC to induce cre expression exhibit an enlarged spleen
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| acute lymphoblastic leukemia | DOID:9952 |
OMIM:247640 OMIM:613065 |
J:182211 | |
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 11/19/2024 MGI 6.24 |
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