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Allele Symbol Allele Name Allele ID |
Jag2tm1Grid targeted mutation 1, Tom Gridley MGI:2657215 |
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| Summary |
9 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice do not survive postnatally
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• hair cell stereocilia bundles exhibit some disorganization
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• hair cell stereocilia bundles exhibit some disorganization
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all homozygotes die within a few minutes after birth because of craniofacial defects
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• most newborn homozygotes are unable to breathe
• only a few are able to breathe, but all of these die within a few hours after birth with large amounts of air in the stomach and intestines
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• at E18 (~1 day prior to birth), homozygotes display fusion of the tongue with the unelevated palatal shelves, preventing proper formation of the oral cavity
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• at E18 (~1 day prior to birth), all homozygotes display a bilateral cleft of the secondary palate
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• palatal shelves fail to elevate and fuse in the dorsal midline
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• at E10.5-E11.5, homozygotes display a hyperplastic AER
• however, no decreased AER programmed cell death is noted at E10.5
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• at E10.5-E11.5, homozygotes display a hyperplastic AER
• however, no decreased AER programmed cell death is noted at E10.5
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• 5 of 13 newborn homozygotes show primary chondrogenic or secondary osseous fusions of the distal phalanges, with the hindfeet more severely affected
• several newborns exhibit splitting of the terminal phalanx of digit 2 of the hindfeet
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• newborn homozygotes exhibit syndactyly of the fore- and hindlimbs
• syndactyly is associated with reduced interdigital cell death in digits 2, 3, and 4, and often involves soft tissue fusions
• hindlimbs are more severely affected than forelimbs
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• at E13.5, mutant foot plates are rounder and do not exhibit the same degree of interdigital clefting as wild-type foot plates
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• at E18 (~1 day prior to birth), homozygotes display fusion of the tongue with the unelevated palatal shelves, preventing proper formation of the oral cavity
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• at E18 (~1 day prior to birth), all homozygotes display a bilateral cleft of the secondary palate
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• palatal shelves fail to elevate and fuse in the dorsal midline
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• at E18 (~1 day prior to birth), homozygotes display altered thymic morphology
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• at E18, both the number and the size of developing medullary regions are reduced
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• at E18, homozygotes display impaired differentiation of gamma-delta T lymphocyte lineage
• in contrast, differentiation of alpha-beta T cells is unaffected
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• the total percentage of gamma-delta T cells, as well as those among the CD4-/CD8- double negative subset, is about one-half that observed in wild-type thymi
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• at E18, homozygotes exhibit a significant increase in the total number and density of cochlear hair cells, primariliy due to an increase in IHCs
(J:53432)
• a significant reduction in the ratio of OHCs to IHCs is observed
(J:53432)
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• at E18, homozygotes display multiple IHC duplications, resulting in the addition of a nearly complete second row of IHCs
(J:53432)
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• at E18, homozygotes often exhibit abnormal orientation of IHC stereociliary bundles
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• at E18, patterning in OHC rows is much more irregular than in wild-type
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• at E18, homozygotes contain four rather than three rows of OHCs in some regions of the sensory epithelium
(J:53432)
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• at E18, the overall pattern of non-sensory supporting cells is present; however, some regions appear to contain a reduced number of supporting cell nuclei
• some pairs of IHCs appear to be in contact with one another, suggesting absence of interdigitating supporting cells at these positions
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• at E18, homozygotes exhibit a significant increase in the total number and density of cochlear hair cells, primariliy due to an increase in IHCs
(J:53432)
• a significant reduction in the ratio of OHCs to IHCs is observed
(J:53432)
|
|
• at E18, homozygotes display multiple IHC duplications, resulting in the addition of a nearly complete second row of IHCs
(J:53432)
|
|
• at E18, homozygotes contain four rather than three rows of OHCs in some regions of the sensory epithelium
(J:53432)
|
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• at E18, homozygotes often exhibit abnormal orientation of IHC stereociliary bundles
|
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• at E18, patterning in OHC rows is much more irregular than in wild-type
|
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• at E18 (~1 day prior to birth), homozygotes display altered thymic morphology
|
|
• at E18, both the number and the size of developing medullary regions are reduced
|
|
• at E18, homozygotes display impaired differentiation of gamma-delta T lymphocyte lineage
• in contrast, differentiation of alpha-beta T cells is unaffected
|
|
• the total percentage of gamma-delta T cells, as well as those among the CD4-/CD8- double negative subset, is about one-half that observed in wild-type thymi
|
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• 5 of 13 newborn homozygotes show primary chondrogenic or secondary osseous fusions of the distal phalanges, with the hindfeet more severely affected
• several newborns exhibit splitting of the terminal phalanx of digit 2 of the hindfeet
|
|
• at E18 (~1 day prior to birth), homozygotes display altered thymic morphology
|
|
• at E18, both the number and the size of developing medullary regions are reduced
|
|
• at E18 (~1 day prior to birth), homozygotes display fusion of the tongue with the unelevated palatal shelves, preventing proper formation of the oral cavity
|
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• at E18 (~1 day prior to birth), all homozygotes display a bilateral cleft of the secondary palate
|
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• palatal shelves fail to elevate and fuse in the dorsal midline
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• heterozygotes exhibit a slight but insignificant increase in average IHC density and total number relative to wild-type mice
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• heterozygotes display a relatively high incidence of IHC duplications relative to wild-type mice
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• heterozygotes exhibit a slight but insignificant increase in average IHC density and total number relative to wild-type mice
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• heterozygotes display a relatively high incidence of IHC duplications relative to wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• unlike in wild-type mice, cells within the organ of Corti continue to proliferate between E14.5 and E17.5
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• hair cells are disorganized and very densely packed
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• cochlea exhibit a greater increase in inner hair cells than in Jag2tm1Grid homozygotes
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• hair cell stereocilia bundles exhibit a lose of polarity and disorganization
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• many of the missing supporting cells are derived from the Deiter's cell population
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• hair cells are disorganized and very densely packed
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• cochlea exhibit a greater increase in inner hair cells than in Jag2tm1Grid homozygotes
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• hair cell stereocilia bundles exhibit a lose of polarity and disorganization
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cochlea possess increased inner hair cells but not as many as in Jag2tm1Grid homozygotes
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• cochlea possess increased inner hair cells but not as many as in Jag2tm1Grid homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cells within the organ of Corti, including pillar cells, Dieter's cells and Hensen's cells, continue to proliferate between E14.5 and E17.5 unlike in wild-type mice
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• cochlea exhibit a greater increase in inner hair cells than in Jag2tm1Grid homozygotes
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• cochlea exhibit a greater increase in inner hair cells than in Jag2tm1Grid homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cochlea possess increased inner hair cells but not as many as in Jag2tm1Grid homozygotes
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• cochlea possess increased inner hair cells but not as many as in Jag2tm1Grid homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E18, these mutants display only partial suppression of the Jag2tm1Grid homozygous mutant phenotype in the IHC row
• in these mice, regions of two rows of IHCs are interspersed with regions of a single row of IHCs
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• at E18, these mutants display only partial suppression of the Jag2tm1Grid homozygous mutant phenotype in the IHC row
• in these mice, regions of two rows of IHCs are interspersed with regions of a single row of IHCs
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• surprisingly, at E18, double homozygotes display total suppression of the increase in number of hair cells in the IHC row observed in single Jag2tm1Grid homozygotes; this effect is specific for IHCs
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• at E18, double homozygotes display disrupted patterning of the OHC rows, similar to single Jag2tm1Grid homozygotes
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• at E18, double homozygotes display generation of supernumerary OHCs, similar to single Jag2tm1Grid homozygotes
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• surprisingly, at E18, double homozygotes display total suppression of the increase in number of hair cells in the IHC row observed in single Jag2tm1Grid homozygotes; this effect is specific for IHCs
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• at E18, double homozygotes display disrupted patterning of the OHC rows, similar to single Jag2tm1Grid homozygotes
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• at E18, double homozygotes display generation of supernumerary OHCs, similar to single Jag2tm1Grid homozygotes
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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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