Phenotypes Associated with This Genotype

Genotype
MGI:3641311

• Allelic Composition: Tbx1^{tm1(Fgf8)Vite}/Tbx1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

postnatal lethality ( J:110620 )

• loss of 10.5% of heterozygotes by weaning is observed

embryo

fourth pharyngeal arch artery hypoplasia ( J:110620 )

• hypoplsasia of the 4th pharyngeal arch arteries is observed at E10.5

fourth pharyngeal arch hypoplasia ( J:110620 )

• hypoplasia of the 4th pharyngeal arch is observed at E10.5

craniofacial

fourth pharyngeal arch artery hypoplasia ( J:110620 )

• hypoplsasia of the 4th pharyngeal arch arteries is observed at E10.5

fourth pharyngeal arch hypoplasia ( J:110620 )

• hypoplasia of the 4th pharyngeal arch is observed at E10.5

cardiovascular system

fourth pharyngeal arch artery hypoplasia ( J:110620 )

• hypoplsasia of the 4th pharyngeal arch arteries is observed at E10.5

abnormal aortic arch morphology ( J:110620 )

• observed in 75% of fetuses at E18.5

retroesophageal right subclavian artery ( J:110620 )

• observed in 75% of fetuses at E18.5

cervical aortic arch ( J:110620 )

• observed in 75% of fetuses at E18.5

interrupted aortic arch ( J:110620 )

• observed in 75% of fetuses at E18.5

skeleton

kyphosis ( J:110620 )

• fusion of elements results in a rigid curved structure that induces kyphosis and reduces flexibility in the adult

abnormal cervical vertebrae morphology ( J:110620 )

abnormal cervical atlas morphology ( J:110620 )

• the centrum of C1 is absent or severely hypoplastic

abnormal arcus anterior morphology ( J:110620 )

• there is severe hypoplasia of the anterior arch of the atlas

abnormal cervical axis morphology ( J:110620 )

• abnormal arch of the axis

• the C2 vertebral body is missing

abnormal vertebral arch morphology ( J:110620 )

• abnormal arch of the axis (C1)

• there is severe hypoplasia of the anterior arch of the atlas (C2)

absent vertebral body ( J:110620 )

• the C2 vertebral body is missing, while the centrum of C1 is absent or severely hypoplastic

fusion of vertebral bodies ( J:110620 )

• at E18.5, fusion of caudal vertebral bodies surrounding the nucleus pulposus is seen in mutants

• lumbar and sacral regions of the spine are affected as well as the caudal region; number of fused elements is proportional to severity of tail coiling

• vental aspect of each affected skeletal element appear fused to adjacent elements

limbs/digits/tail

curly tail ( J:110620 )

• some mice have severe tail coiling requiring amputation because the coil forms a tight ventral knot which interferes with mating and waste exretion; tail phenotype (not severity) is identifiable at E18.5

kinked tail ( J:110620 )

• tails of heterozygotes range from mildly to severely kinked and eventually require amputation; this phenotype was visible at E18.5