Analysis Tools|
Allele Symbol Allele Name Allele ID |
Nkx2-6tm1Siz targeted mutation 1, Seigo Izumo MGI:2386678 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygotes are viable and fertile and show no obvious defects in the caudal pharyngeal pouch derivatives (i.e. thymus, parathyroid glands, and thyroid gland), heart, and gut, in spite of thorough analysis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• double homozygotes die at E10.5
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• double homozygous mutant hearts lack endocardial cushion formation
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• double homozygotes exhibit a less clear distinction between the atrium and ventricle; the expansion of the common atrium is significantly less extensive relative to Nkx2-5tm1Siz mutant embryos
• in addition, differentiation of atrial myocytes appears to be retarded
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• at E10.5, double homozygotes display massive pericardial effusion, similar to Nkx2.5tm1Siz mutant embryos
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• at E10.5, double homozygotes exhibit severe growth retardation
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• at E9.5 and E10.5, double homozygotes show disrupted pharynx formation in the pharyngeal part of the foregut, characterized by severe dilatation, reduced numbers of pharyngeal endodermal cells, and loss of a continuous endodermal cell layer
• only a small number of endodermal cells are detected, mainly on the ventral side
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• at E8.75, double homozygotes exhibit enhanced apoptosis in pharyngeal endodermal cells, except for a small number of non-apoptotic cells on the ventral side
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• at E8.75, double homozygotes exhibit reduced proliferation of pharyngeal endodermal cells
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• at E10.5, double homozygotes exhibit severe growth retardation
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• double homozygotes fail to form pharyngeal pouches, as shown by loss of Pax9 expression in the endoderm of pharyngeal pouches
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• at E10.5, double homozygotes display massive pericardial effusion, similar to Nkx2.5tm1Siz mutant embryos
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice heterozygous for Nkx2-5tm1Siz and homozygous for Nkx2-6tm1Siz are viable and fertile and display no detectable abnormalities either in pharynx or in heart
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice homozygous for Nkx2-5tm1Siz and heterozygous for Nkx2-6tm1Siz lack endocardial cushion formation
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• mice homozygous for Nkx2-5tm1Siz and heterozygous for Nkx2-6tm1Siz show an atrial phenotype similar to that observed in double homozygous mutant mice
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• at E8.5 and E9.5, mice homozygous for Nkx2-5tm1Siz and heterozygous for Nkx2-6tm1Siz exhibit poor pharyngeal formation, similar to that observed in double homozygous mutant embryos
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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 10/09/2024 MGI 6.24 |
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