normal phenotype
• mutants are fertile and indistinguishable from wild-type littermates
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Allele Symbol Allele Name Allele ID |
Rargtm2Ipc targeted mutation 2, Pierre Chambon MGI:1932114 |
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Summary |
3 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mutants are fertile and indistinguishable from wild-type littermates
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• normal numbers are seen at E18.5, however only 3 survive the perinatal period and reach adulthood, indicating that a majority die around birth
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• 2/3 of mutants exhibit kidney hypoplasia
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• double mutants exhibit an increase in the frequency and severity of axial skeletal malformations compared to the single mutants
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• 80% exhibit a bilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone)
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• 3 of 4 show bilateral agenesis of the zygomatic process of the squamosal bone
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• 80% exhibit a bilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone)
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• ventral extension of the cricoid cartilage; severity is not increased in the double mutant compared to single mutant
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• abnormal extensions of both anterior horns of the thyroid cartilage which are fused to the hyoid bone in all mutants
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• 100% penetrance of cervical vertebrae defects
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• 3 of 5 show C2-C3 fusion
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• low penetrance (1 of 6 mutants)
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• low penetrance of agenesis of the stapedial artery (2 of 6 mutants)
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• 80% exhibit a bilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone)
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• 3 of 4 show bilateral agenesis of the zygomatic process of the squamosal bone
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• 80% exhibit a bilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone)
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• low penetrance of the presence of a cervical thymus (1 of 6 mutants)
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• low penetrance of bilateral Harderian gland agenesis (1 of 6 mutants)
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• low penetrance of agenesis of the stapedial artery (2 of 6 mutants)
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• 80% exhibit a bilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone)
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• low penetrance of the presence of a cervical thymus (1 of 6 mutants)
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• low penetrance of the presence of a cervical thymus (1 of 6 mutants)
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• ventral extension of the cricoid cartilage; severity is not increased in the double mutant compared to single mutant
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• abnormal extensions of both anterior horns of the thyroid cartilage which are fused to the hyoid bone in all mutants
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• increase in the severity of the anterior eye segment malformations seen in single Rxratm2Ipc 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 12/10/2024 MGI 6.24 |
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