All Phenotypes Tbx1<tm1Dsr> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tbx1^tm1Dsr
targeted mutation 1, Deepak Srivastava
MGI:3510038

Summary

8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	\Tbx1^tm1Dsr/\Tbx1^tm1Dsr	either: 129/Sv or (involves: 129/Sv * C57BL/6)	MGI:3510312
ht2	\Tbx1^tm1Dsr/\Tbx1⁺	either: 129/Sv or (involves: 129/Sv * C57BL/6)	MGI:3510311
cn3	\Tbx1^tm1Dsr/\Tbx1^tm1Dsr \Tg(KRT14-cre)1Amc/0	involves: 129 * C57BL/6J * CBA	MGI:7834413
cn4	\Tbx1^tm1Dsr/\Tbx1^tm1Dsr \H2az2^{Tg(Wnt1-cre)11Rth}/\H2az2⁺	involves: 129 * C57BL/6J * CBA/J	MGI:7834414
cn5	\Tbx1^tm1Dsr/\Tbx1^tm1.1Dsr \H2az2^{Tg(Wnt1-cre)11Rth}/\H2az2⁺	involves: 129 * C57BL/6J * CBA/J	MGI:7840105
cn6	\Tbx1^tm1Dsr/\Tbx1^tm1Dsr \Twist2^{tm1.1(cre)Dor}/\Twist2⁺	involves: 129X1/SvJ * C57BL/6J	MGI:7834412
cn7	\Tbx1^tm1Dsr/\Tbx1^tm1.1Dsr \Twist2^{tm1.1(cre)Dor}/\Twist2⁺	involves: 129X1/SvJ * C57BL/6J	MGI:7840103
cn8	\Tbx1^tm1Dsr/\Tbx1^tm1.1Dsr \Mesp1^tm2(cre)Ysa/\Mesp1⁺	involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj	MGI:7840104

Allelic Composition	\Tbx1^tm1Dsr/\Tbx1^tm1Dsr
Genetic Background	either: 129/Sv or (involves: 129/Sv * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1^tm1Dsr mutation (0 available); any Tbx1 mutation (36 available)

♀	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 middle ear ossicle morphology ( J:93588 )

abnormal stapes morphology ( J:93588 )

small ears ( J:93588 )

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:93588 )

abnormal stapes morphology ( J:93588 )

small ears ( 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 middle ear ossicle morphology ( J:93588 )

abnormal stapes morphology ( J:93588 )

hematopoietic system

athymia ( J:93588 )

• aplasia of the thymus

endocrine/exocrine glands

athymia ( J:93588 )

• aplasia of the thymus

growth/size/body

small ears ( J:93588 )

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

Allelic Composition	\Tbx1^tm1Dsr/\Tbx1⁺
Genetic Background	either: 129/Sv or (involves: 129/Sv * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1^tm1Dsr mutation (0 available); any Tbx1 mutation (36 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:93588 )

• in about 2% of instances

cardiovascular system

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

• 10% of mice with an aberrant origin of the right subclavian artery

interrupted aortic arch ( J:93588 )

• interruptions in the aortic arch

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

Allelic Composition	\Tbx1^tm1Dsr/\Tbx1^tm1Dsr \Tg(KRT14-cre)1Amc/0
Genetic Background	involves: 129 * C57BL/6J * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1^tm1Dsr mutation (0 available); any Tbx1 mutation (36 available)
Tg(KRT14-cre)1Amc mutation (2 available)

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

craniofacial

abnormal palatal shelf morphology ( J:183770 )

• short palatal shelves of maxilla

anterior cleft palate ( J:183770 )

• incomplete cleft in the anterior region of the palate

behavior/neurological

absent gastric milk in neonates ( J:183770 )

digestive/alimentary system

abnormal palatal shelf morphology ( J:183770 )

• short palatal shelves of maxilla

anterior cleft palate ( J:183770 )

• incomplete cleft in the anterior region of the palate

growth/size/body

abnormal palatal shelf morphology ( J:183770 )

• short palatal shelves of maxilla

anterior cleft palate ( J:183770 )

• incomplete cleft in the anterior region of the palate

Allelic Composition	\Tbx1^tm1Dsr/\Tbx1^tm1Dsr \H2az2^{Tg(Wnt1-cre)11Rth}/\H2az2⁺
Genetic Background	involves: 129 * C57BL/6J * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (25 available)
Tbx1^tm1Dsr mutation (0 available); any Tbx1 mutation (36 available)

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

craniofacial

craniofacial phenotype ( J:183770 )

N	• no palatal phenotype

Allelic Composition	\Tbx1^tm1Dsr/\Tbx1^tm1.1Dsr \H2az2^{Tg(Wnt1-cre)11Rth}/\H2az2⁺
Genetic Background	involves: 129 * C57BL/6J * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (25 available)
Tbx1^tm1.1Dsr mutation (0 available); any Tbx1 mutation (36 available)
Tbx1^tm1Dsr mutation (0 available); any Tbx1 mutation (36 available)

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

craniofacial

abnormal hyoid bone morphology ( J:217210 )

incus hypoplasia ( J:217210 )

abnormal malleus morphology ( J:217210 )

• delayed ossification

hearing/vestibular/ear

incus hypoplasia ( J:217210 )

abnormal malleus morphology ( J:217210 )

• delayed ossification

mortality/aging

perinatal lethality, complete penetrance ( J:217210 )

respiratory system

small thyroid cartilage ( J:217210 )

skeleton

abnormal hyoid bone morphology ( J:217210 )

incus hypoplasia ( J:217210 )

abnormal malleus morphology ( J:217210 )

• delayed ossification

small thyroid cartilage ( J:217210 )

Allelic Composition	\Tbx1^tm1Dsr/\Tbx1^tm1Dsr \Twist2^{tm1.1(cre)Dor}/\Twist2⁺
Genetic Background	involves: 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1^tm1Dsr mutation (0 available); any Tbx1 mutation (36 available)
Twist2^{tm1.1(cre)Dor} mutation (1 available); any Twist2 mutation (10 available)

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

craniofacial

craniofacial phenotype ( J:183770 )

N	• no palatal phenotype

Allelic Composition	\Tbx1^tm1Dsr/\Tbx1^tm1.1Dsr \Twist2^{tm1.1(cre)Dor}/\Twist2⁺
Genetic Background	involves: 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1^tm1.1Dsr mutation (0 available); any Tbx1 mutation (36 available)
Tbx1^tm1Dsr mutation (0 available); any Tbx1 mutation (36 available)
Twist2^{tm1.1(cre)Dor} mutation (1 available); any Twist2 mutation (10 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:217210 )

craniofacial

craniofacial phenotype ( J:217210 )

N	• mice exhibit normal open anterior or posterior fontanelles, as well as cranial sutures

interparietal bone hypoplasia ( J:217210 )

small supraoccipital bone ( J:217210 )

• in more than half of mice

parietal bone hypoplasia ( J:217210 )

• reduced in size

abnormal hyoid bone morphology ( J:217210 )

• fusion between the hyoid bone and thyroid cartilage

incus hypoplasia ( J:217210 )

abnormal malleus morphology ( J:217210 )

• delayed ossification

hearing/vestibular/ear

incus hypoplasia ( J:217210 )

abnormal malleus morphology ( J:217210 )

• delayed ossification

respiratory system

small thyroid cartilage ( J:217210 )

behavior/neurological

absent gastric milk in neonates ( J:217210 )

skeleton

interparietal bone hypoplasia ( J:217210 )

small supraoccipital bone ( J:217210 )

• in more than half of mice

parietal bone hypoplasia ( J:217210 )

• reduced in size

abnormal hyoid bone morphology ( J:217210 )

• fusion between the hyoid bone and thyroid cartilage

incus hypoplasia ( J:217210 )

abnormal malleus morphology ( J:217210 )

• delayed ossification

small thyroid cartilage ( J:217210 )

clavicle hypoplasia ( J:217210 )

split xiphoid process ( J:217210 )

abnormal cervical atlas morphology ( J:217210 )

abnormal cervical axis morphology ( J:217210 )

• hypoplastic ossification

abnormal periosteum morphology ( J:217210 )

• lack of sub-periosteal bone formation within the hyoid bone

Allelic Composition	\Tbx1^tm1Dsr/\Tbx1^tm1.1Dsr \Mesp1^tm2(cre)Ysa/\Mesp1⁺
Genetic Background	involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mesp1^tm2(cre)Ysa mutation (3 available); any Mesp1 mutation (18 available)
Tbx1^tm1.1Dsr mutation (0 available); any Tbx1 mutation (36 available)
Tbx1^tm1Dsr mutation (0 available); any Tbx1 mutation (36 available)

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

craniofacial

frontal bone hypoplasia ( J:217210 )

interparietal bone hypoplasia ( J:217210 )

small supraoccipital bone ( J:217210 )

parietal bone hypoplasia ( J:217210 )

decreased hyoid bone size ( J:217210 )

short mandible ( J:217210 )

hearing/vestibular/ear

tympanic ring hypoplasia ( J:217210 )

respiratory system

small thyroid cartilage ( J:217210 )

skeleton

frontal bone hypoplasia ( J:217210 )

interparietal bone hypoplasia ( J:217210 )

small supraoccipital bone ( J:217210 )

parietal bone hypoplasia ( J:217210 )

decreased hyoid bone size ( J:217210 )

short mandible ( J:217210 )

small thyroid cartilage ( J:217210 )

clavicle hypoplasia ( J:217210 )

split xiphoid process ( J:217210 )

abnormal cervical atlas morphology ( J:217210 )

• hypoplastic ossification

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