Phenotypes Associated with This Genotype

Genotype
MGI:7335080

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

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

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