Phenotypes Associated with This Genotype

Genotype
MGI:3850161

• Allelic Composition: Tbx1^tm1Pa/Tbx1^tm1Pa
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

abnormal laryngeal muscle morphology ( J:94411 )

• laryngeal muscles when present are extremely hypoplastic

muscle

abnormal laryngeal muscle morphology ( J:94411 )

• laryngeal muscles when present are extremely hypoplastic

abnormal myogenesis ( J:94411 )

• 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

abnormal hypoglossal cord morphology ( J:94411 )

• at E10.5, the length of the hypoglossal cord is reduced

• however, tongue muscle development is not impaired

abnormal pharyngeal muscle morphology ( J:150130 )

• mice exhibit sporadic asymmetric first-arch-derived muscles unlike in wild-type mice

respiratory system

abnormal laryngeal muscle morphology ( J:94411 )

• laryngeal muscles when present are extremely hypoplastic

abnormal pharyngeal muscle morphology ( J:150130 )

• 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