Analysis Tools|
Allele Symbol Allele Name Allele ID |
Nkx3-2+ wild type MGI:1930225 |
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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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• 78% of mutants exhibit mild abnormalities of the vertebrae, such as split or reduced ossification centers
• however, overall length of the vertebral column and neural arch morphology are not affected
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• heterozygotes are overtly normal; however, unlike wild-type mice, 46% of heterozygotes exhibit kinked tails
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• at P2, newborn heterozygotes show signs of fusion between the gonium and the malleus, despite the observed gonium hypoplasia
• moreover, adult heterozygotes show no overt phenotype associated with the earlier gonium hypoplasia, with the malleus, gonium and tympanic forming a continuous skeletal structure
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• although elements of the malleus, such as the processus brevis and the manubrium appear normal, the width (but not the length) of the malleus is significantly decreased
• however, at E18.5, middle ear ossicle development is relatively normal, with the incus and stapes developing as wild-type with respect to both size and articulation
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• at E18.5, heterozygtes exhibit no overt defects associated with the tympanic ring but do show variable hypoplasia of the gonium, not observed in adulthood
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• at P2, newborn heterozygotes show signs of fusion between the gonium and the malleus, despite the observed gonium hypoplasia
• moreover, adult heterozygotes show no overt phenotype associated with the earlier gonium hypoplasia, with the malleus, gonium and tympanic forming a continuous skeletal structure
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• although elements of the malleus, such as the processus brevis and the manubrium appear normal, the width (but not the length) of the malleus is significantly decreased
• however, at E18.5, middle ear ossicle development is relatively normal, with the incus and stapes developing as wild-type with respect to both size and articulation
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• at E18.5, heterozygtes exhibit no overt defects associated with the tympanic ring but do show variable hypoplasia of the gonium, not observed in adulthood
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• at P2, newborn heterozygotes show signs of fusion between the gonium and the malleus, despite the observed gonium hypoplasia
• moreover, adult heterozygotes show no overt phenotype associated with the earlier gonium hypoplasia, with the malleus, gonium and tympanic forming a continuous skeletal structure
|
|
• although elements of the malleus, such as the processus brevis and the manubrium appear normal, the width (but not the length) of the malleus is significantly decreased
• however, at E18.5, middle ear ossicle development is relatively normal, with the incus and stapes developing as wild-type with respect to both size and articulation
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• at E18.5, heterozygtes exhibit no overt defects associated with the tympanic ring but do show variable hypoplasia of the gonium, not observed in adulthood
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Gli2 expression, but not Gli3 de-repression, rescues intestinal phenotypes in Smotm2Amc/Smotm2Amc Nkx3-2tm1(cre)Wez/Nkx3-2+ embryos
| N |
• intestinal development is rescued
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Intestinal mesenchymal proliferation and expansion are affected in Smotm2Amc/Smotm2Amc Nkx3-2tm1(cre)Wez/Nkx3-2+ embryos
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• mice die immediately after birth
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• lack of Goblet and enteroendocrine cell lineage differentiation at E18.5
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• at E18.5, mice exhibit fewer mesenchyme cells between thin layers of mesentery and intestinal epithelium compared with control mice
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• lack of Goblet and enteroendocrine cell lineage differentiation at E18.5
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• decreased SMA+ or Desmin+ intestinal smooth muscle cells
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• absent intestinal mesenchymal proliferation
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• intestinal epithelium do not proliferate at E18.5
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• decreased SMA+ or Desmin+ intestinal smooth muscle cells
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• lack of Goblet and enteroendocrine cell lineage differentiation at E18.5
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• intestinal epithelium do not proliferate at E18.5
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• decreased population
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Gli2 expression, but not Gli3 de-repression, rescues intestinal phenotypes in Smotm2Amc/Smotm2Amc Nkx3-2tm1(cre)Wez/Nkx3-2+ embryos
| N |
• mice are born at the expected Mendelian ratios
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| N |
• mice exhibit normal intestinal development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Gli2 expression, but not Gli3 de-repression, rescues intestinal phenotypes in Smotm2Amc/Smotm2Amc Nkx3-2tm1(cre)Wez/Nkx3-2+ embryos
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• mice exhibit the same defects as in Nkx3-2tm1(cre)Wez/Nkx3-2+ Smom2Amc/Smom2Amc mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Gli2 expression, but not Gli3 de-repression, rescues intestinal phenotypes in Smotm2Amc/Smotm2Amc Nkx3-2tm1(cre)Wez/Nkx3-2+ embryos
| N |
• mice exhibit normal intestinal development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• intestinal mesenchymal compartment is expanded
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• altered radial patterning and anterior-posterior axis patterning of the stomach
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• mesenchyme of the stomach was thickened at E16.5
• hind-stomach was expanded and exhibited a vacuolated epithelium, resembling the pyloric region, with numerous invaginations and a thickened and disorganized circular smooth muscle layer
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• reduced size of fore-stomach as indicated by an anterior shift of the limiting ridge
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• an anterior shift of the limiting ridge is observed
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• the pylorus exhibited a disorganized thickened circular smooth muscle layer, with an epithelium that resembled the epithelium of the duodenum and was devoid of vacuoles, unlike the highly vacuolated control
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• number of parietal cells increased in the thickened epithelial layer at E18.5
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• thicker epithelium at E12.5, E13.5 and E18.5
• the fore-stomach epithelium did not show signs of stratification at E16.5 and resembled hind-stomach epithelium, indicating posteriorization of stomach
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• thicker glandular epithelium at E16.5, however differentiation of this epithelium was unchanged
• exhibited more extensive invagination of the epithelium than in controls
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• the circular smooth muscle layer of the stomach was disorganized at E13.5, E14.5 and E15.5 and was thickened in both the fore-stomach and hind-stomach, suggesting that radial patterning of the stomach was perturbed
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• slightly smaller stomach at E12.5 than controls
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• expansion of enteric neurons in the stomach
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• the circular smooth muscle layer of the stomach was disorganized at E13.5, E14.5 and E15.5 and was thickened in both the fore-stomach and hind-stomach, suggesting that radial patterning of the stomach was perturbed
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• number of parietal cells increased in the thickened epithelial layer at E18.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital diaphragmatic hernia | DOID:3827 |
OMIM:142340 OMIM:222400 OMIM:610187 |
J:103437 | |
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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