Analysis Tools
embryo
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• stated to be indistinguishable from mice homozygous for Trim33tm1.2Ros
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• expanded at E5.5
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Allele Symbol Allele Name Allele ID |
Tg(CAG-cre)13Miya transgene insertion 13, Jun-ichi Miyazaki MGI:2176435 |
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| Summary |
21 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• stated to be indistinguishable from mice homozygous for Trim33tm1.2Ros
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• expanded at E5.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no mice are identified beyond E13.5 when the allele is inherited maternally
• however, live-born mice are produced when the allele is inherited paternally
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• underdeveloped branching vitelline vessels at E12.5 when the allele is inherited maternally
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• underdeveloped branching vitelline vessels at E12.5 when the allele is inherited maternally
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• despite being present at E8.5, no mice are identified beyond E9.5
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• in embryonic and extra-embryonic ectoderms
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• at E7.5, mice exhibit compact, indiscernible, structures, underdeveloped cavities and absent ectoplacental cones compared with wild-type mice
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• disorganized and reduced in size
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• in 2 of 11 mice at E8.5
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• at E7.5
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• in 2 of 11 mice at E8.5
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• in embryonic and extra-embryonic ectoderms
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• in E7.5 embryos and the placental cone and trophectoderm-derived tissues
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice with a maternally inherited allele exhibit a full rescue of neurological and behavioral abnormalities (rotarod, marble burying, open field explorations, nest building, audiogenic seizure threshold, and forced swim test)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• body weights mice from 4 to 7 weeks after birth are significantly lower than those of wild-type
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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 |
Ercc6tm1Gvh/Ercc6tm1Gvh Xpatm1Gvh/Xpatm1Hvs Tg(CAG-cre)13Miya/0 mice are severely reduced in size
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in mouse embryonic fibroblasts
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• reporter expression is recovered following cre-mediated removal of the neo sequence from the Watson piwiRNA generating locus on chromosome 17
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice that survive until weaning continue to have a high mortality rate
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• greater than 80% of pups die in the first two weeks of life
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• mice show residual enamel matrix, indicating that ameloblasts do not completely remove the enamel matrix to form properly mineralized enamel
• increase in proliferation of progenitor cells in the cervical loop and transit-amplifying region of the tooth and the length of the transit-amplifying region is shorter
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• increase in proliferation of progenitor cells in the cervical loop
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• the stellate reticulum is disorganized
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• ameloblasts and the underlying stratum intermedium are disorganized and the well-defined border between ameloblasts and stratum intermedium is lost
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• mice show residual enamel matrix, indicating that ameloblasts do not completely remove the enamel matrix to form properly mineralized enamel
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• growth of ameloblasts is disorganized with detachment of the ameloblasts from the adjacent dentin, loss of polarity, and stratification occurring
(J:148393)
• ameloblasts are disorganized, crowded and there is an increase in the number of ameloblasts at both the secretory and maturation stages
(J:204891)
• ameloblasts have abnormal cell polarity at the secretory and maturation stages, with misorientation of nuclei and Golgi
(J:204891)
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• teeth show an increase in the distance between the cervical loop region and the appearance of the enamel protein amelogenin compared with controls, suggesting that ameloblasts show a delay in differentiation
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• mice have irregular deposition of enamel
(J:148393)
• incisor enamel is less densely mineralized at all stages examined and total volume of enamel is decreased, with enamel covering a decreased percent of the surface area of the tooth
(J:204891)
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• the interdigitated and highly organized pattern is lost in the enamel of incisors and the enamel rods intersect at irregular angles and do not completely span the dentin-enamel junction to the enamel surface
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• molars show little to no enamel
• treatment of mice with a MEK inhibitor for 28 days rescues the enamel defect
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• malocclusion occurs in these mice
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• large cysts in the bone in the region of the third molar at P21
• cysts are lined by epithelium infiltrated by ghost cells, or aneucleic cells with basophilic granules
• cysts are near, but not associated with, the third molar, suggesting calcifying odontogenic cysts
• cysts are not observed at P70, indicating they resolve in adulthood
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• the ratio of the cephalo-caudal to ventro-dorsal cranial axes is significantly smaller than controls
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• nasal septal deviation is prominent in these mice
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• mice show residual enamel matrix, indicating that ameloblasts do not completely remove the enamel matrix to form properly mineralized enamel
• increase in proliferation of progenitor cells in the cervical loop and transit-amplifying region of the tooth and the length of the transit-amplifying region is shorter
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• increase in proliferation of progenitor cells in the cervical loop
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• the stellate reticulum is disorganized
|
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• ameloblasts and the underlying stratum intermedium are disorganized and the well-defined border between ameloblasts and stratum intermedium is lost
|
|
• mice show residual enamel matrix, indicating that ameloblasts do not completely remove the enamel matrix to form properly mineralized enamel
|
|
• growth of ameloblasts is disorganized with detachment of the ameloblasts from the adjacent dentin, loss of polarity, and stratification occurring
(J:148393)
• ameloblasts are disorganized, crowded and there is an increase in the number of ameloblasts at both the secretory and maturation stages
(J:204891)
• ameloblasts have abnormal cell polarity at the secretory and maturation stages, with misorientation of nuclei and Golgi
(J:204891)
|
|
• teeth show an increase in the distance between the cervical loop region and the appearance of the enamel protein amelogenin compared with controls, suggesting that ameloblasts show a delay in differentiation
|
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• mice have irregular deposition of enamel
(J:148393)
• incisor enamel is less densely mineralized at all stages examined and total volume of enamel is decreased, with enamel covering a decreased percent of the surface area of the tooth
(J:204891)
|
|
• the interdigitated and highly organized pattern is lost in the enamel of incisors and the enamel rods intersect at irregular angles and do not completely span the dentin-enamel junction to the enamel surface
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• molars show little to no enamel
• treatment of mice with a MEK inhibitor for 28 days rescues the enamel defect
|
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• malocclusion occurs in these mice
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• large cysts in the bone in the region of the third molar at P21
• cysts are lined by epithelium infiltrated by ghost cells, or aneucleic cells with basophilic granules
• cysts are near, but not associated with, the third molar, suggesting calcifying odontogenic cysts
• cysts are not observed at P70, indicating they resolve in adulthood
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• nasal septal deviation is prominent in these mice
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• mice that survive until weaning are runted but catch up in weight to controls by 20 weeks of age
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• the high mortality rate of neonates and the abnormal cranial/facial structures suggests pups have trouble suckling
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• almost all mice develop papillomas in the forestomach by 13 months of age
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• angiosarcomas develop in about 40% of older mice
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• papillomas are occasionally found in the anal epithelium
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• 88% of mice develop skin papillomas by 58 weeks of age
• they are frequently found in the skull, face, and external auditory canal
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• older mice (40-58 weeks) develop myocardial fibrosis
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• nasal septal deviation is prominent in these mice
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• mice show residual enamel matrix, indicating that ameloblasts do not completely remove the enamel matrix to form properly mineralized enamel
• increase in proliferation of progenitor cells in the cervical loop and transit-amplifying region of the tooth and the length of the transit-amplifying region is shorter
|
|
• increase in proliferation of progenitor cells in the cervical loop
|
|
• the stellate reticulum is disorganized
|
|
• ameloblasts and the underlying stratum intermedium are disorganized and the well-defined border between ameloblasts and stratum intermedium is lost
|
|
• mice show residual enamel matrix, indicating that ameloblasts do not completely remove the enamel matrix to form properly mineralized enamel
|
|
• growth of ameloblasts is disorganized with detachment of the ameloblasts from the adjacent dentin, loss of polarity, and stratification occurring
(J:148393)
• ameloblasts are disorganized, crowded and there is an increase in the number of ameloblasts at both the secretory and maturation stages
(J:204891)
• ameloblasts have abnormal cell polarity at the secretory and maturation stages, with misorientation of nuclei and Golgi
(J:204891)
|
|
• teeth show an increase in the distance between the cervical loop region and the appearance of the enamel protein amelogenin compared with controls, suggesting that ameloblasts show a delay in differentiation
|
|
• mice have irregular deposition of enamel
(J:148393)
• incisor enamel is less densely mineralized at all stages examined and total volume of enamel is decreased, with enamel covering a decreased percent of the surface area of the tooth
(J:204891)
|
|
• the interdigitated and highly organized pattern is lost in the enamel of incisors and the enamel rods intersect at irregular angles and do not completely span the dentin-enamel junction to the enamel surface
|
|
• molars show little to no enamel
• treatment of mice with a MEK inhibitor for 28 days rescues the enamel defect
|
|
• malocclusion occurs in these mice
|
|
• large cysts in the bone in the region of the third molar at P21
• cysts are lined by epithelium infiltrated by ghost cells, or aneucleic cells with basophilic granules
• cysts are near, but not associated with, the third molar, suggesting calcifying odontogenic cysts
• cysts are not observed at P70, indicating they resolve in adulthood
|
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• the ratio of the cephalo-caudal to ventro-dorsal cranial axes is significantly smaller than controls
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• 88% of mice develop skin papillomas by 58 weeks of age
• they are frequently found in the skull, face, and external auditory canal
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• almost all mice develop papillomas in the forestomach by 13 months of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Costello syndrome | DOID:0050469 |
OMIM:218040 |
J:204891 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no heterozygous pups are obtained indicating prenatal lethality
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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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• identical to mice null for Smad4 alone
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• not induced at E5.5
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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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• diffuse cytoplasmic signals and inclusions are found in the liver
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Impaired kidney development in Wnt4tm1.1Svo/Wnt4tm1.1Svo Tg(CAG-cre)13Miya/0 fetuses
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• kidney development is impaired and the kidneys remain rudimentary
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• swelling as early as 2 weeks of age
• inflammatory effects in all mice by 8 weeks
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• mostly in the periocular region initially
• eventually spreads over the whole face, skin erosion and hair loss
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• mostly in the periocular region initially
• eventually spreads over the whole face, skin erosion and hair loss
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• swelling as early as 2 weeks of age
• inflammatory effects in all mice by 8 weeks
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• swelling as early as 2 weeks of age
• inflammatory effects in all mice by 8 weeks
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• swelling as early as 2 weeks of age
• inflammatory effects in all mice by 8 weeks
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• there is a high mortality rate at birth but those mice that do survive are apparently normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no mutant mice are obtained after natural birth; however, when delivered by C-section mutants are found to be viable, anatomically normal and of normal size at E18, suggesting that death occurs at an early neonatal stage
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• gradual decrease in survival after birth with only 20% surviving beyond weaning
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• impaired
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• the number of cilia per single multiciliated tracheal cell is reduced
• however, cilia length is similar to wild-type controls
• in tracheal cilia some basal bodies fail to position apically and the basal foot is absent
• in tracheal cilia the rotational polarity of axonemes is scattered
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• the number of cilia per single multiciliated tracheal cell is reduced
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• coordinated tracheal ciliary beating is disturbed with the direction of beating dispersed rather than in the lung to oral direction seen in wild-type mice
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• in ex vivo bead assay the flow of fluorescent beads reveals only limited uncoordinated movement
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• display a coughing/sneezing like phenotype
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| N |
• unexpectedly mice are born with primary cilia
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• tendency toward a decrease in the number of cilia per cell in multiciliated cells in the oviduct and brain ventricle
• in cilia in the trachea, oviduct and brain ventricle basal feet are absent
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• in cilia basal feet are absent
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• tendency toward a decrease in the number of cilia per cell in multiciliated cells
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• about 30% shorter than in wild-type controls
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• tendency toward a decrease in the number of cilia per cell in multiciliated cells
• in cilia basal feet are absent
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• the number of cilia per single multiciliated tracheal cell is reduced
• however, cilia length is similar to wild-type controls
• in tracheal cilia some basal bodies fail to position apically and the basal foot is absent
• in tracheal cilia the rotational polarity of axonemes is scattered
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• the number of cilia per single multiciliated tracheal cell is reduced
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• coordinated tracheal ciliary beating is disturbed with the direction of beating dispersed rather than in the lung to oral direction seen in wild-type mice
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• about 30% shorter than in wild-type controls
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• about 70 - 80% of wild-type littermates
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• tendency toward a decrease in the number of cilia per cell in multiciliated cells
• in cilia basal feet are absent
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• in cilia basal feet are absent
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• tendency toward a decrease in the number of cilia per cell in multiciliated cells
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• slight tendency for hydrocephaly
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| N |
• no increases in inflammation levels in the lung are detected in mice kept in specific pathogen free conditions
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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N |
• female mice exhibit no abnormalities
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• severe spermatogenic hypoplasia
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• focal with vacuolar degeneration
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• in two-thirds of mice
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• focal with vacuolar degeneration
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• severe spermatogenic hypoplasia
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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 04/23/2024 MGI 6.23 |
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