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Phenotypes Associated with This Genotype
Genotype
MGI:3046796
Allelic
Composition
Tbx1tm2Bld/Tbx1tm2Bld
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm2Bld mutation (1 available); any Tbx1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• alignment of the outflow tract is abnormal in 8 out of 14 embryos at E18.5
• a subvalvular ventricular septal defect is seen

craniofacial
• the pharyngeal phenotype is essentially identical to Tbx1tm1Bld homozygotes

embryo
• the pharyngeal phenotype is essentially identical to Tbx1tm1Bld homozygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
J:91013


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
06/12/2024
MGI 6.13
The Jackson Laboratory