Analysis Tools
normal phenotype
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• homozygous mutants are viable and fertile
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Allele Symbol Allele Name Allele ID |
Tbx1tm3Bld targeted mutation 3, Antonio Baldini MGI:3046793 |
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| Summary |
8 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygous mutants are viable and fertile
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E18.5 only those aortic arch abnormalities present in Tbx1tm1Bld heterozygotes are seen
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:91013 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the aortic arch abnormalities are milder than those present in Tbx1tm1Bld homozygotes as the 3rd and 6th pharyngeal arch artery form and develop normally while the 4th pharyngeal arch artery is absent or hypoplastic
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• the 4th pharyngeal arch artery is absent or hypoplastic
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• the 4th pharyngeal arch artery is absent or hypoplastic
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• the same cardiovascular phenotype as in Tbx1tm1Bld homozygotes is seen including truncus arteriosus
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• the mitotic index in the secondary heart field and adjacent splanchnic mesoderm is reduced by 18% and 19%, respectively
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| N |
• none of the mutants had cleft palates at E18.5 unlike Tbx1tm1Bld homozygotes
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• the aortic arch abnormalities are milder than those present in Tbx1tm1Bld homozygotes as the 3rd and 6th pharyngeal arch artery form and develop normally while the 4th pharyngeal arch artery is absent or hypoplastic
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• the 4th pharyngeal arch artery is absent or hypoplastic
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• the 4th pharyngeal arch artery is absent or hypoplastic
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• the thymus is present but smaller than normal with widely separated lobes
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• the aortic arch abnormalities are milder than those present in Tbx1tm1Bld homozygotes as the 3rd and 6th pharyngeal arch artery form and develop normally while the 4th pharyngeal arch artery is absent or hypoplastic
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• the 4th pharyngeal arch artery is absent or hypoplastic
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• the 4th pharyngeal arch artery is absent or hypoplastic
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• the thymus is present but smaller than normal with widely separated lobes
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• the thymus is present but smaller than normal with widely separated lobes
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:91013 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E18.5 embryos are found to display PTA
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E18.5 only those aortic arch abnormalities present in Tbx1tm1Bld heterozygotes are seen
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:91013 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E13.5 and E18.5, mice treated with tamoxifen at E11.5 and E12.5 lack identifiable mesenteric lymphatic vessels unlike in wild-type mice
• however, normal lymphatic vessel development occurs when mice are treated with tamoxifen at E14.5
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• at E13.5 and E18.5, mice treated with tamoxifen at E11.5 and E12.5 lack identifiable mesenteric lymphatic vessels unlike in wild-type mice
• however, normal lymphatic vessel development occurs when mice are treated with tamoxifen at E14.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• absent at E10.5
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• absent at E10.5
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• absent at E10.5
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• 100% show aortic arch defects
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• 100% penetrance
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• 100% penetrance of ventricular septal defect
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• the post-otic stream directed to the 3rd pharyngeal arch is interrupted and the circumpharyngeal stream is abnormally distributed
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• the pre-otic stream on neural crest cells directed to the 2nd pharyngeal arch is reduced
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• absent at E10.5
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• absent at E10.5
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• absent at E10.5
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• exhibit loss of the 4th pharyngeal arch at E10.5
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• exhibit hypoplasia of the 2nd pharyngeal arch at E10.5
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• exhibit loss of the 6th pharyngeal arch at E10.5
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• exhibit loss of the 3rd pharyngeal arch at E10.5
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• exhibit reduced proliferation of mesenchymal cells at E8.5
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• the 4th pouch is smaller
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• 100% show hypoplastic external ears
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• 3 of 15 show thymic hypoplasia
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• terminal projections of the accessory nerve show disarray and are fused with each other
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• glossopharyngeal nerve is hypoplastic and the terminal projections show disarray and are fused with each other
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• the mandibular branch of the trigeminal nerve is fused caudally with the facial nerve
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• terminal projections of the vagus nerve show disarray and are fused with each other
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• severe
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| N |
• do not exhibit cleft palate
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• absent at E10.5
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• absent at E10.5
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• absent at E10.5
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• exhibit loss of the 4th pharyngeal arch at E10.5
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• exhibit hypoplasia of the 2nd pharyngeal arch at E10.5
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• exhibit loss of the 6th pharyngeal arch at E10.5
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• exhibit loss of the 3rd pharyngeal arch at E10.5
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• 100% show hypoplastic external ears
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• 3 of 15 show thymic hypoplasia
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• the post-otic stream directed to the 3rd pharyngeal arch is interrupted and the circumpharyngeal stream is abnormally distributed
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• the pre-otic stream on neural crest cells directed to the 2nd pharyngeal arch is reduced
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• 3 of 15 show thymic hypoplasia
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• 100% show hypoplastic external ears
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die between P2 and P4
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• at E18.5, mice lack mesenteric lymph vessels unlike wild-type mice
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• development of gastrointestinal lymphatic vasculature fails unlike in wild-type mice
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• between P2 and P4
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• between P2 and P4, mice exhibit abdominal chylous ascites unlike wild-type mice
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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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