Phenotypes associated with this allele

• Allele Symbol: Tbx1^tm1.1Dsr
• Allele Name: targeted mutation 1.1, Deepak Srivastava
• Allele ID: MGI:3510040
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbx1^tm1.1Dsr/Tbx1^tm1.1Dsr	either: 129/Sv or (involves: 129/Sv * C57BL/6)	MGI:3510314
ht2	Tbx1^tm1.1Dsr/Tbx1^+	either: 129/Sv or (involves: 129/Sv * C57BL/6)	MGI:3510313

Genotype
MGI:3510314

hm1

• Allelic Composition: Tbx1^tm1.1Dsr/Tbx1^tm1.1Dsr
• Genetic Background: either: 129/Sv or (involves: 129/Sv * C57BL/6)

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

mortality/aging

neonatal lethality, complete penetrance ( J:93588 )

• 100% mortality

cardiovascular system

aberrant origin of the right subclavian artery ( J:93588 )

• aberrant right subclavian artery

right aortic arch ( J:93588 )

• right sided or double aortic arches

double aortic arch ( J:93588 )

• right sided or double aortic arches

persistent truncus arteriosus ( J:93588 )

double outlet right ventricle ( J:93588 )

• occasional misalignment causing both pulmonary trunk and ascending aorta to arise from the right ventricle

ventricular septal defect ( J:93588 )

craniofacial

fusion of basioccipital and basisphenoid bone ( J:93588 )

• abnormal fusion of the basioccipital and basisphenoid bones

abnormal hyoid bone morphology ( J:93588 )

• hyoid bone very small and fragmentary

abnormal middle ear ossicle morphology ( J:93588 )

abnormal stapes morphology ( J:93588 )

palatal shelves fail to meet at midline ( J:93588 )

• palatal shelves fail to fuse

cleft secondary palate ( J:93588 )

anotia ( J:93588 )

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:93588 )

abnormal stapes morphology ( J:93588 )

anotia ( J:93588 )

abnormal inner ear morphology ( J:93588 )

• smaller than normal

decreased tympanic ring size ( J:93588 )

immune system

athymia ( J:93588 )

• aplasia of the thymus

skeleton

fusion of basioccipital and basisphenoid bone ( J:93588 )

• abnormal fusion of the basioccipital and basisphenoid bones

abnormal hyoid bone morphology ( J:93588 )

• hyoid bone very small and fragmentary

abnormal middle ear ossicle morphology ( J:93588 )

abnormal stapes morphology ( J:93588 )

small cricoid cartilage ( J:93588 )

• the cricoid cartilage is very small and fragmentary

hematopoietic system

athymia ( J:93588 )

• aplasia of the thymus

digestive/alimentary system

palatal shelves fail to meet at midline ( J:93588 )

• palatal shelves fail to fuse

cleft secondary palate ( J:93588 )

respiratory system

small cricoid cartilage ( J:93588 )

• the cricoid cartilage is very small and fragmentary

endocrine/exocrine glands

athymia ( J:93588 )

• aplasia of the thymus

growth/size/body

palatal shelves fail to meet at midline ( J:93588 )

• palatal shelves fail to fuse

cleft secondary palate ( J:93588 )

anotia ( J:93588 )

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

Genotype
MGI:3510313

ht2

• Allelic Composition: Tbx1^tm1.1Dsr/Tbx1⁺
• Genetic Background: either: 129/Sv or (involves: 129/Sv * C57BL/6)

mortality/aging

neonatal lethality, incomplete penetrance ( J:93588 )

• in about 10% of instances

cardiovascular system

abnormal aortic arch morphology ( J:93588 )

• 20% incidence of anomalies of the aortic arch

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