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Phenotypes Associated with This Genotype
Genotype
MGI:3586915
Allelic
Composition
Tbx1tm1Pa/Tbx1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Pa mutation (2 available); any Tbx1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at E11.5, the fourth aortic arch arteries are either absent or reduced in thickness in 19% of heterozygotes compared to 2% of wild-type embryos
• Background Sensitivity: the incidence of this phenotype is increased on an inbred 129 background compared to mixed 129 and C57BL/6 or 129 and Swiss Webster backgrounds

craniofacial
• at E11.5, the fourth aortic arch arteries are either absent or reduced in thickness in 19% of heterozygotes compared to 2% of wild-type embryos
• Background Sensitivity: the incidence of this phenotype is increased on an inbred 129 background compared to mixed 129 and C57BL/6 or 129 and Swiss Webster backgrounds

embryo
• at E11.5, the fourth aortic arch arteries are either absent or reduced in thickness in 19% of heterozygotes compared to 2% of wild-type embryos
• Background Sensitivity: the incidence of this phenotype is increased on an inbred 129 background compared to mixed 129 and C57BL/6 or 129 and Swiss Webster backgrounds

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
J:70730


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