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Phenotypes Associated with This Genotype
Genotype
MGI:3850161
Allelic
Composition
Tbx1tm1Pa/Tbx1tm1Pa
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Pa mutation (2 available); any Tbx1 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• laryngeal muscles when present are extremely hypoplastic

muscle
• laryngeal muscles when present are extremely hypoplastic
• at E9.5, mandibular mesenchyme is abnormally patterned with expansion of the expression domains of Tbx2, Tbx3, Dlx4, Msx2, and Prx2 in the proximal arch region
• at E10.5, muscle masses derived from the first and second branchial arches and muscles that normally form in the caudal pharyngeal region are absent and the length of the hypoglossal cord is reduced
• at E12.5, expression of myogenic regulatory factors indicates that the majority of branchiomeric muscles do not form; however hypobranchial muscle formation is normal
• at E16.5, mandibular arch-derived muscles are frequently hypoplastic and asymmetric or unilateral, with muscle loss more severe on the left side than on the right side
• at E10.5, the length of the hypoglossal cord is reduced
• however, tongue muscle development is not impaired
• mice exhibit sporadic asymmetric first-arch-derived muscles unlike in wild-type mice

respiratory system
• laryngeal muscles when present are extremely hypoplastic
• mice exhibit sporadic asymmetric first-arch-derived muscles unlike in wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
J:94411


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