Phenotypes associated with this allele

• Allele Symbol: Tbx1^{tm1(Fgf8)Vite}
• Allele Name: targeted mutation 1, Francesca Vitelli
• Allele ID: MGI:3641283
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbx1^tm1(Fgf8)Vite/Tbx1^tm1(Fgf8)Vite	involves: 129S7/SvEvBrd * C57BL/6	MGI:3641316
ht2	Tbx1^tm1(Fgf8)Vite/Tbx1^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3641311
ht3	Tbx1^tm1Bld/Tbx1^tm1(Fgf8)Vite	involves: 129S7/SvEvBrd * C57BL/6	MGI:3641317
cx4	Tbx1^tm1(Fgf8)Vite/Dp(16Dgcr14-Ufd1l)217Bld	involves: 129S7/SvEvBrd	MGI:3641323

Genotype
MGI:3641316

hm1

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

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

embryo

abnormal pharyngeal arch morphology ( J:110620 )

• hypoplasia of the caudal pharyngeal apparatus is observed at E 10.5

craniofacial

abnormal pharyngeal arch morphology ( J:110620 )

• hypoplasia of the caudal pharyngeal apparatus is observed at E 10.5

cardiovascular system

double aortic arch ( J:110620 )

• one incidence of double aortic arch with aortic dilation was observed

persistent truncus arteriosus ( J:110620 )

• PTA associated with the right or left aortic arch is observed at E18.5; in all affected mutants, PTA communicates solely with the right ventricle

abnormal interventricular septum morphology ( J:110620 )

• a ventricular septal defect is observed

abnormal semilunar valve morphology ( J:110620 )

• there is a loss of continuity between the mitral and semilunar valves

Genotype
MGI:3641311

ht2

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

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

Genotype
MGI:3641317

ht3

• Allelic Composition: Tbx1^tm1Bld/Tbx1^{tm1(Fgf8)Vite}
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

embryo

abnormal pharyngeal arch morphology ( J:110620 )

• at E10.5, embryos show an abnormal pharynx lacking caudal arches

absent pharyngeal arch arteries ( J:110620 )

• arch arteries are absent at E10.5

craniofacial

abnormal pharyngeal arch morphology ( J:110620 )

• at E10.5, embryos show an abnormal pharynx lacking caudal arches

absent pharyngeal arch arteries ( J:110620 )

• arch arteries are absent at E10.5

cardiovascular system

absent pharyngeal arch arteries ( J:110620 )

• arch arteries are absent at E10.5

double aortic arch ( J:110620 )

• one fetus had double aortic arch with aortic dilation

persistent truncus arteriosus ( J:110620 )

• PTA associated with the right or left aortic arch is observed at E18.5; in all affected mutants, PTA communicates solely with the right ventricle

abnormal interventricular septum morphology ( J:110620 )

• a ventricular septal defect is observed

abnormal semilunar valve morphology ( J:110620 )

• there is a loss of continuity between the mitral and semilunar valves

Genotype
MGI:3641323

cx4

• Allelic Composition: Tbx1^{tm1(Fgf8)Vite}/Dp(16Dgcr14-Ufd1l)217Bld
• Genetic Background: involves: 129S7/SvEvBrd

skeleton

abnormal skeleton morphology ( J:110620 )

• mutants display similar skeletal defects to Tbx1^Fgf8 heterozygotes