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Phenotypes Associated with This Genotype
Genotype
MGI:3510314
Allelic
Composition
Tbx1tm1.1Dsr/Tbx1tm1.1Dsr
Genetic
Background
either: 129/Sv or (involves: 129/Sv * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1.1Dsr mutation (0 available); any Tbx1 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• aberrant right subclavian artery
• right sided or double aortic arches
• right sided or double aortic arches
• occasional misalignment causing both pulmonary trunk and ascending aorta to arise from the right ventricle

craniofacial
• abnormal fusion of the basioccipital and basisphenoid bones
• hyoid bone very small and fragmentary
• palatal shelves fail to fuse

hearing/vestibular/ear
• smaller than normal

immune system
• aplasia of the thymus

skeleton
• abnormal fusion of the basioccipital and basisphenoid bones
• hyoid bone very small and fragmentary
• the cricoid cartilage is very small and fragmentary

hematopoietic system
• aplasia of the thymus

digestive/alimentary system
• palatal shelves fail to fuse

respiratory system
• the cricoid cartilage is very small and fragmentary

endocrine/exocrine glands
• aplasia of the thymus

growth/size/body
• palatal shelves fail to fuse

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
J:93588


Contributing Projects:
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
09/10/2019
MGI 6.14
The Jackson Laboratory