Phenotypes associated with this allele

• Allele Symbol: Tbx1^tm1.1Dsr
• Allele Name: targeted mutation 1.1, Deepak Srivastava
• Allele ID: MGI:3510040
• Summary: 6 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
hm2	Tbx1^tm1.1Dsr/Tbx1^tm1.1Dsr	involves: 129 * C57BL/6J	MGI:7335080
ht3	Tbx1^tm1.1Dsr/Tbx1^+	either: 129/Sv or (involves: 129/Sv * C57BL/6)	MGI:3510313
cn4	Tbx1^tm1Dsr/Tbx1^tm1.1Dsr H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6J * CBA/J	MGI:7840105
cn5	Tbx1^tm1Dsr/Tbx1^tm1.1Dsr Twist2^tm1.1(cre)Dor/Twist2^+	involves: 129X1/SvJ * C57BL/6J	MGI:7840103
cn6	Tbx1^tm1Dsr/Tbx1^tm1.1Dsr Mesp1^tm2(cre)Ysa/Mesp1^+	involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj	MGI:7840104

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:7335080

hm2

• Allelic Composition: Tbx1^tm1.1Dsr/Tbx1^tm1.1Dsr
• Genetic Background: involves: 129 * C57BL/6J

mortality/aging

perinatal lethality, complete penetrance ( J:217210 )

craniofacial

wide cranial sutures ( J:217210 )

wide coronal suture ( J:217210 )

small cranium ( J:217210 )

frontal bone hypoplasia ( J:217210 )

interparietal bone hypoplasia ( J:217210 )

small supraoccipital bone ( J:217210 )

parietal bone hypoplasia ( J:217210 )

temporal bone hypoplasia ( J:217210 )

abnormal zygomatic arch morphology ( J:217210 )

absent zygomatic arch ( J:217210 )

absent hyoid bone ( J:217210 )

abnormal upper incisor morphology ( J:183770 , J:270507 )

absent upper incisors ( J:183770 , J:270507 )

incus hypoplasia ( J:217210 )

abnormal malleus morphology ( J:217210 )

absent gonial bone ( J:217210 )

• in some mice

gonial bone hypoplasia ( J:217210 )

absent stapes ( J:217210 )

abnormal oral epithelium morphology ( J:183770 )

• uniformly thick and fragments of adherent squamous epithelium

• thick and disorganized

• impaired palatal shelf growth and intraoral epithelial fusion from E13.5 to E16.5

• hyperproliferative at E14.5 without an increase in apoptosis

abnormal hard palate morphology ( J:183770 , J:270507 )

cleft secondary palate ( J:183770 , J:270507 )

cleft hard palate ( J:183770 , J:270507 )

cleft soft palate ( J:183770 , J:270507 )

submucous cleft palate ( J:183770 , J:270507 )

otic hypertelorism ( J:217210 )

hearing/vestibular/ear

incus hypoplasia ( J:217210 )

abnormal malleus morphology ( J:217210 )

absent gonial bone ( J:217210 )

• in some mice

gonial bone hypoplasia ( J:217210 )

absent stapes ( J:217210 )

otic hypertelorism ( J:217210 )

absent tympanic ring ( J:217210 )

• in some mice

tympanic ring hypoplasia ( J:217210 )

digestive/alimentary system

abnormal oral epithelium morphology ( J:183770 )

• uniformly thick and fragments of adherent squamous epithelium

• thick and disorganized

• impaired palatal shelf growth and intraoral epithelial fusion from E13.5 to E16.5

• hyperproliferative at E14.5 without an increase in apoptosis

abnormal hard palate morphology ( J:183770 , J:270507 )

cleft secondary palate ( J:183770 , J:270507 )

cleft hard palate ( J:183770 , J:270507 )

cleft soft palate ( J:183770 , J:270507 )

submucous cleft palate ( J:183770 , J:270507 )

growth/size/body

abnormal upper incisor morphology ( J:183770 , J:270507 )

absent upper incisors ( J:183770 , J:270507 )

abnormal oral epithelium morphology ( J:183770 )

• uniformly thick and fragments of adherent squamous epithelium

• thick and disorganized

• impaired palatal shelf growth and intraoral epithelial fusion from E13.5 to E16.5

• hyperproliferative at E14.5 without an increase in apoptosis

abnormal hard palate morphology ( J:183770 , J:270507 )

cleft secondary palate ( J:183770 , J:270507 )

cleft hard palate ( J:183770 , J:270507 )

cleft soft palate ( J:183770 , J:270507 )

submucous cleft palate ( J:183770 , J:270507 )

otic hypertelorism ( J:217210 )

skeleton

wide cranial sutures ( J:217210 )

wide coronal suture ( J:217210 )

small cranium ( J:217210 )

frontal bone hypoplasia ( J:217210 )

interparietal bone hypoplasia ( J:217210 )

small supraoccipital bone ( J:217210 )

parietal bone hypoplasia ( J:217210 )

temporal bone hypoplasia ( J:217210 )

abnormal zygomatic arch morphology ( J:217210 )

absent zygomatic arch ( J:217210 )

absent hyoid bone ( J:217210 )

abnormal upper incisor morphology ( J:183770 , J:270507 )

absent upper incisors ( J:183770 , J:270507 )

incus hypoplasia ( J:217210 )

abnormal malleus morphology ( J:217210 )

absent gonial bone ( J:217210 )

• in some mice

gonial bone hypoplasia ( J:217210 )

absent stapes ( J:217210 )

split xiphoid process ( J:217210 )

abnormal cervical axis morphology ( J:217210 )

• hypoplastic ossification

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:183770 , J:217210 , J:270507

Genotype
MGI:3510313

ht3

• 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

Genotype
MGI:7840105

cn4

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

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 )

Genotype
MGI:7840103

cn5

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

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

Genotype
MGI:7840104

cn6

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

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