Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tbx1+ wild type MGI:2179195 |
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| Summary |
45 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Malformations of the semicircular canals in Chd7Whi/Chd7+, Tbx1tm1Bld/Tbx1+, and Chd7Whi/Chd7+ Tbx1tm1Bld/Tbx1+ mice
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• 56% of mice exhibit lateral canal defects unlike wild-type mice including 33% of mice with thin lateral canal and 22% of mice with ampulla only
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• in 22% of mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants exhibit lower levels of spontaneous alternations in the T-maze at 0 and 30 second delays compared to wild-type mice; both wild-type and mutant mice reach a chance level at a 60 second delay
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• mutants exhibit a higher degree of thigmotaxis in the inescapable open field than wild-type mice
• however, mutants are indistinguishable in anxiety-related behaviors in the elevated plus maze from wild-type mice
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• mutants initially exhibit higher levels of contact with a novel, non-mouse object compared with wild-type mice
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• in the T-maze, mutants visit the same arms across trials more often than wild-type mice when mutants show spontaneous alternation (0 second delay) but not when they do not show spontaneous alternation at a 60 second delay, indicating a repetitive behavioral tendency
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• mutants exhibit lower levels of active and passive affiliative social interaction at 2 months of age, but no alterations in aggression, olfactory investigation or motor behavior
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• mutant pups are impaired in complex patterns of vocalization but not simple vocal patterns
• pups exhibit vocalization less frequently in complex, two-syllable, composite, frequency steps and flat, and for shorter duration in harmonics, two-syllable, composite, and frequency steps
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autism spectrum disorder | DOID:0060041 | J:177772 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• PPI is significantly impaired; mice have reduced PPI
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Data Sources
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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IMPC - UCD
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IMPC - UCD
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IMPC - UCD
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IMPC - UCD
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IMPC - UCD
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IMPC - UCD
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IMPC - UCD
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IMPC - UCD
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in about 10% of instances
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• 20% incidence of anomalies of the aortic arch
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:93588 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in about 2% of instances
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• 10% of mice with an aberrant origin of the right subclavian artery
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• interruptions in the aortic arch
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:93588 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 3 of 29 had outflow tract and pharyngeal arch artery abnormalities including 1 with teratology of fallot with pulmonary atresia, 1 with double outlet right ventricle, and 1 with a retroesophageal right subclavian artery
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• 10 of 20 had middle ear abnormalities apparent upon dissection including chronic otitis media, infiltration of inflammatory cells, thickening of the middle ear submucosa, thickening of the bony wall of the bulla, middle ear fluid accumulation, hyperplasia of ciliated cells and associated hearing loss
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• the average ABR threshold was 46 dB compared to 29 dB in wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:91664 | |
| otitis media | DOID:10754 | J:91664 | ||
| velocardiofacial syndrome | DOID:12583 |
OMIM:192430 |
J:91664 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• about 25% of embryos show cardiovascular defects at E17.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: the incidence of this phenotype is increased on an inbred 129 background compared to mixed 129 and C57BL/6 or 129 and Swiss Webster backgrounds
• at E11.5, the fourth aortic arch arteries are either absent or reduced in thickness in 45% of heterozygotes compared to 7% of wild-type embryos
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• Background Sensitivity: the incidence of this phenotype is increased on an inbred 129 background compared to mixed 129 and C57BL/6 or 129 and Swiss Webster backgrounds
• at E11.5, the fourth aortic arch arteries are either absent or reduced in thickness in 45% of heterozygotes compared to 7% of wild-type embryos
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• Background Sensitivity: the incidence of this phenotype is increased on an inbred 129 background compared to mixed 129 and C57BL/6 or 129 and Swiss Webster backgrounds
• at E11.5, the fourth aortic arch arteries are either absent or reduced in thickness in 45% of heterozygotes compared to 7% of wild-type embryos
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:70730 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E11.5, the fourth aortic arch arteries are either absent or reduced in thickness in 19% of heterozygotes compared to 2% of wild-type embryos
• Background Sensitivity: the incidence of this phenotype is increased on an inbred 129 background compared to mixed 129 and C57BL/6 or 129 and Swiss Webster backgrounds
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• at E11.5, the fourth aortic arch arteries are either absent or reduced in thickness in 19% of heterozygotes compared to 2% of wild-type embryos
• Background Sensitivity: the incidence of this phenotype is increased on an inbred 129 background compared to mixed 129 and C57BL/6 or 129 and Swiss Webster backgrounds
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• at E11.5, the fourth aortic arch arteries are either absent or reduced in thickness in 19% of heterozygotes compared to 2% of wild-type embryos
• Background Sensitivity: the incidence of this phenotype is increased on an inbred 129 background compared to mixed 129 and C57BL/6 or 129 and Swiss Webster backgrounds
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:70730 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E10.5, all embryos have an abnormal and hypoplastic fourth branchial arch
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• at E10.5, all embryos have an abnormal and hypoplastic fourth branchial arch
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• at E10.5, all embryos have an abnormal and hypoplastic fourth branchial arch
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E18.5 the same aortic arch abnormalities are seen as in Tbx1tm1Bld heterozygotes
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:91013 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at weaning there is 4.1% loss of homozygotes compared to expected numbers
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• at E10.5, all heterozygotes exhibit at least one abnormal fourth pharyngeal arch artery (PAA), that is typically scored as abnormally small or absent
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• hypoplastic at E10.5
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• at E10.5, all heterozygotes exhibit at least one abnormal fourth pharyngeal arch artery (PAA), that is typically scored as abnormally small or absent
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• hypoplastic at E10.5
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• at E10.5, all heterozygotes exhibit at least one abnormal fourth pharyngeal arch artery (PAA), that is typically scored as abnormally small or absent
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• hypoplastic at E10.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:67409 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• loss of 10.5% of heterozygotes by weaning is observed
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• hypoplsasia of the 4th pharyngeal arch arteries is observed at E10.5
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• hypoplasia of the 4th pharyngeal arch is observed at E10.5
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• hypoplsasia of the 4th pharyngeal arch arteries is observed at E10.5
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• hypoplasia of the 4th pharyngeal arch is observed at E10.5
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• hypoplsasia of the 4th pharyngeal arch arteries is observed at E10.5
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• observed in 75% of fetuses at E18.5
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• observed in 75% of fetuses at E18.5
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• observed in 75% of fetuses at E18.5
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• observed in 75% of fetuses at E18.5
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• fusion of elements results in a rigid curved structure that induces kyphosis and reduces flexibility in the adult
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• the centrum of C1 is absent or severely hypoplastic
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• there is severe hypoplasia of the anterior arch of the atlas
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• abnormal arch of the axis
• the C2 vertebral body is missing
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• abnormal arch of the axis (C1)
• there is severe hypoplasia of the anterior arch of the atlas (C2)
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• the C2 vertebral body is missing, while the centrum of C1 is absent or severely hypoplastic
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• 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
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• 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
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• tails of heterozygotes range from mildly to severely kinked and eventually require amputation; this phenotype was visible at E18.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• heterozygotes are recovered at normal Mendelian ratios at E14.5
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• at E14.5, 8% of heterozygotes exhibit an aberrant right subclavian artery
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• at E14.5, 8% of heterozygotes show OFT rotational defects
• however, no common arterial trunk is identified at E14.5
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• at E14.5, 31% of heterozygotes exhibit a perimembranous VSD
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 41% of E11.5 embryos show aplastic vessels while 31% of E11.5 embryos show hypoplastic vessels
• 53% of E12.5 embryos show vessel defects, including patent right carotid duct, with 37% presenting aplastic vessels
• 46% of E13.5 embryos show fourth-related abnormal great vessel configurations
• 29% of embryos show great vessel anomalies at E15.5
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• increase in numbers of apoptotic cells surrounding both sixth arch arteries at E11.5
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• 65% of E11.5 embryos exhibit arch artery defects, however by E15.5, mice recover from this defect such that only 29% of mice have arch artery abnormalities
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• 24% of embryos show aplastic fourth arch artery defects at E11.5
• 46% of E13.5 embryos show fourth-related abnormal great vessel configurations
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• the number of SM22-positive cells (differentiated vascular smooth muscle cells) surrounding the 4th arch arteries are reduced at E10.5
• at E11.5, the vascular smooth muscle cell component is reduced in depth/thickness in the hypoplastic vessels, however discontinuities of vascular smooth muscle cell coverage are no longer observed
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• increase in proliferation of vascular smooth muscle cells in the pharyngeal system at E10.5
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• 65% of E11.5 embryos exhibit arch artery defects, however by E15.5, mice recover from this defect such that only 29% of mice have arch artery abnormalities
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• 24% of embryos show aplastic fourth arch artery defects at E11.5
• 46% of E13.5 embryos show fourth-related abnormal great vessel configurations
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• 65% of E11.5 embryos exhibit arch artery defects, however by E15.5, mice recover from this defect such that only 29% of mice have arch artery abnormalities
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• 24% of embryos show aplastic fourth arch artery defects at E11.5
• 46% of E13.5 embryos show fourth-related abnormal great vessel configurations
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• the number of SM22-positive cells (differentiated vascular smooth muscle cells) surrounding the 4th arch arteries are reduced at E10.5
• at E11.5, the vascular smooth muscle cell component is reduced in depth/thickness in the hypoplastic vessels, however discontinuities of vascular smooth muscle cell coverage are no longer observed
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• increase in proliferation of vascular smooth muscle cells in the pharyngeal system at E10.5
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• increase in proliferation of vascular smooth muscle cells in the pharyngeal system at E10.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E9.0 - E11, transient ectopic neurogenesis is seen posteroventromedially and later anterodorsolaterally in the otic vesicle
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• at E9.0 - E11, transient ectopic neurogenesis is seen posteroventromedially and later anterodorsolaterally in the otic vesicle
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 2 of 14 have an abnormal origin of the right subclavian artery, an additional 3 of 14 have a retroesophageal right subclavian artery (1 of these also has an interupted aortic arch), and 1 of 14 have a right subclavian artery that arises from the pulmonary artery
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• 3 of 14 have a retroesophageal right subclavian artery
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• 1 of 14 heterozyotes has an abnormally high aortic arch
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• 1 of 14 has an interrupted aortic arch
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• hypotrophic at E10.5
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• hypotrophic fourth arch at E10.5
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• hypotrophic at E10.5
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• hypotrophic fourth arch at E10.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:67796 | |
| velocardiofacial syndrome | DOID:12583 |
OMIM:192430 |
J:67796 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 47% of E15.5 fetuses show great vessel defects
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Fourth pharyngeal arch artery aplasia in Tbx1tm2.1Bem/Tbx1+ Tfap2atm1(cre)Moon/Tfap2a+ mice
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• at E10.5, 76% of mice exhibit hypoplasia of the fourth pharyngeal aortic arch
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• at E10.5, 76% of mice exhibit hypoplasia of the fourth pharyngeal aortic arch
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• at E10.5, 76% of mice exhibit hypoplasia of the fourth pharyngeal aortic arch
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal heart development at E14.5
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| N |
• mice do not exhibit any morphological defects in the inner ear
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Heart development defects in Tbx1tm6(cre)Bld/Tbx1+ Gt(ROSA)26Sortm1(Tbx1/GFP)Bem/Gt(ROSA)26Sortm1(Tbx1/GFP)Bem mice
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• no mice are present at P10
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• in 2 of 5 mice
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• in 3 of 5 mice
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• in all mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• defects are seen in 78% of fetuses at E18.5 when tamoxifen is administered at E8.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• defects are seen in 81, 88, and 89% of fetuses at E18.5 when tamoxifen is administered at E7.5, 8.5 or 9.5 respectively
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• defects are seen in 52, 32, and 63% of fetuses at E18.5 when tamoxifen is administered at E7.5, 8.5 or 9.5 respectively
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• collapse of the membranes of the vestibular compartments
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• cristae degeneration
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• double heterozygotes are recovered at normal Mendelian ratios at E14.5
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• at E14.5, 21% of double heterozygotes exhibit an aberrant right subclavian artery
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• at E14.5, 57% of double heterozygotes show OFT rotational defects, including DORV and overriding aorta
• however, no common arterial trunk is identified at E14.5
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• at E14.5, 86% of double heterozygotes exhibit a perimembranous VSD
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• at E15.5, hearts show no great vessel defects; outflow tract septation is largely normal and the atrial septum and atrioventricular valves are intact
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Malformations of the semicircular canals in Chd7Whi/Chd7+, Tbx1tm1Bld/Tbx1+, and Chd7Whi/Chd7+ Tbx1tm1Bld/Tbx1+ mice
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• all mice exhibit defects in the lateral canal including canal truncation (16%), presence of only the ampulla (67%), or absence of the canal (17%) unlike wild-type mice
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• in 17% of mice
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• 58% mice exhibit posterior canal truncations unlike wild-type mice
• 42% of mice exhibit posterior canal fused to the crus commune unlike wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Pharyngeal arch artery patterning defects in Chd7Whi/Chd7+, Chd7Gt(XK403)Byg/Chd7+ and Chd7Gt(XK403)Byg/Chd7+ Tbx1tm1Bld/Tbx1+ embryos
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• at E10.5, 6 of 17 mice exhibit bilateral fourth pharyngeal arch aplasia compared with 1 of 9 single heterozygotes
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• at E14.5, mice exhibit an increase in interrupted aortic arches compared with either single heterozygote
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• at E14.5, 7 of 17 mice exhibit aberrant right subclavian artery unlike wild-type mice
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• at E10.5, 6 of 17 mice exhibit bilateral fourth pharyngeal arch aplasia compared with 1 of 9 single heterozygotes
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• at E10.5, 6 of 17 mice exhibit bilateral fourth pharyngeal arch aplasia compared with 1 of 9 single heterozygotes
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• at E14.5, 4 of 17 mice exhibit ectopic thymus gland unlike single heterozygotes
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• at E14.5, 4 of 17 mice exhibit ectopic thymus gland unlike single heterozygotes
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• at E14.5, 4 of 17 mice exhibit ectopic thymus gland unlike single heterozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 80% of expected mice die before weaning
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• more mice exhibit DiGeorge-like symptoms compared with single heterozygotes
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• more mice exhibit DiGeorge-like symptoms compared with single heterozygotes
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• more mice exhibit DiGeorge-like symptoms compared with single heterozygotes
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:188772 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Cardiovascular defects in mice with mutations of one or both copies of Eya1tm1Rilm and Tbx1tm1Bem
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• 100% of embryos display a single outflow vessel
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Cardiovascular defects in mice with mutations of one or both copies of Eya1tm1Rilm and Tbx1tm1Bem
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• about 73% of embryos show cardiovascular defects at E17.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all aortic arch patterning defects observed at E18.5 are attributable to a failure of the fourth pharyngeal arch artery (PAA) development evident at E10.5; the third and sixth PAAs appear normal
• the number of arteries scored as non-patent to ink (i.e. 'absent' fourth PAA) are significantly higher in double heterozygotes than in embryos heterozygous for Tbx1tm1Bld alone
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• at E18.5, 18 out of 36 (50%) of double heterozygotes exhibit aortic arch patterning defects vs 27% of mice heterozygous for Tbx1tm1Bld alone
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• three show A-RSA associated with a cervical aortic arch
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• eight of these 18 double heterozygotes exhibit interruption of the aortic arch type B (IAA-B, occurring between the left common carotid artery and the left subclavian artery) associated with a right aortic arch (RAA)
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• eight of these 18 double heterozygotes exhibit interruption of the aortic arch type B (IAA-B, occurring between the left common carotid artery and the left subclavian artery) associated with a right aortic arch (RAA)
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• at E18.5, 14 of 30 double heterozygotes exhibit thymic hypoplasia and/or lobe asymmetry
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• all aortic arch patterning defects observed at E18.5 are attributable to a failure of the fourth pharyngeal arch artery (PAA) development evident at E10.5; the third and sixth PAAs appear normal
• the number of arteries scored as non-patent to ink (i.e. 'absent' fourth PAA) are significantly higher in double heterozygotes than in embryos heterozygous for Tbx1tm1Bld alone
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• all aortic arch patterning defects observed at E18.5 are attributable to a failure of the fourth pharyngeal arch artery (PAA) development evident at E10.5; the third and sixth PAAs appear normal
• the number of arteries scored as non-patent to ink (i.e. 'absent' fourth PAA) are significantly higher in double heterozygotes than in embryos heterozygous for Tbx1tm1Bld alone
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• at E18.5, 14 of 30 double heterozygotes exhibit thymic hypoplasia and/or lobe asymmetry
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• at E18.5, 14 of 30 double heterozygotes exhibit thymic hypoplasia and/or lobe asymmetry
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increase in numbers of apoptotic cells surrounding both sixth arch arteries at E11.5
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• 63% of E11.5 embryos exhibit arch artery defects, however unlike single Tbx1 heterozygotes, double mutants do not recover from these defects at E15.5 and 68% show arch artery defects at this time
• hypoplastic vessels have a smaller cross-sectional area than single Tbx1 heterozygotes, and some show irregular lumen shapes
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• 38% of embryos exhibit aplastic fourth arch artery defects at E11.5
• abnormal extracellular matrix deposition/organization of the fourth arch arteries
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• the number of SM22-positive cells (differentiated vascular smooth muscle cells) surrounding the 4th arch arteries are reduced compared to single Tbx1 heterozygotes at E10.5
• at E11.5, the vascular smooth muscle cell component is reduced in depth/thickness in the hypoplastic vessels, however discontinuities of vascular smooth muscle cell coverage are no longer observed
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• increase in proliferation of vascular smooth muscle cells in the pharyngeal system at E10.5
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• 63% of E11.5 embryos exhibit arch artery defects, however unlike single Tbx1 heterozygotes, double mutants do not recover from these defects at E15.5 and 68% show arch artery defects at this time
• hypoplastic vessels have a smaller cross-sectional area than single Tbx1 heterozygotes, and some show irregular lumen shapes
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• 38% of embryos exhibit aplastic fourth arch artery defects at E11.5
• abnormal extracellular matrix deposition/organization of the fourth arch arteries
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• 63% of E11.5 embryos exhibit arch artery defects, however unlike single Tbx1 heterozygotes, double mutants do not recover from these defects at E15.5 and 68% show arch artery defects at this time
• hypoplastic vessels have a smaller cross-sectional area than single Tbx1 heterozygotes, and some show irregular lumen shapes
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• 38% of embryos exhibit aplastic fourth arch artery defects at E11.5
• abnormal extracellular matrix deposition/organization of the fourth arch arteries
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• the number of SM22-positive cells (differentiated vascular smooth muscle cells) surrounding the 4th arch arteries are reduced compared to single Tbx1 heterozygotes at E10.5
• at E11.5, the vascular smooth muscle cell component is reduced in depth/thickness in the hypoplastic vessels, however discontinuities of vascular smooth muscle cell coverage are no longer observed
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• increase in proliferation of vascular smooth muscle cells in the pharyngeal system at E10.5
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• increase in proliferation of vascular smooth muscle cells in the pharyngeal system at E10.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 52% of E15.5 fetuses show great vessel defects
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E18.5, double heterozygotes show no significant increase in the penetrance or severity of aortic arch patterning defects relative to Tbx1tm1Bld heterozygotes
• observed defects include interrupted aortic arch type-B (20%), aberrant origin of the right subclavian artery (30%), and VSDs (membranous 20%; muscular: 10%)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• become cyanotic immediately after birth and die
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• stenosis of the pulmonary trunk
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• exhibit severe cardiac defects with incomplete penetrance (about 60%) at E15.5, E18.5 and in newborns
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• enlarged atrioventricular canal at E10.5
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• occasionally see malformation of the coronary vessels
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• occasionally see mispositioning of the aorta
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• some show the aorta and the pulmonary artery arising from the right ventricle
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• abnormal drainage of the pulmonary vein into a common instead of the left atrium
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• atrioventricular valve defects
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• atrial septal defects
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• hearts are malformed, however they are properly patterned in the atrioventricular canal and around the inner curvature
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• reduced ventricular expansion and abnormal ventricular shape are seen at E10.5
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• ventricular septal defects
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• absent
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• the second arch arteries are reduced in size
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• absent
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• absent
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• dorsal aortae originate directly from the aortic sac
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• absent
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• the second arch arteries are reduced in size
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• absent
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• absent
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|
• absent
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• the second arch arteries are reduced in size
|
|
• absent
|
|
• absent
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants display similar skeletal defects to Tbx1Fgf8 heterozygotes
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• large
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|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• hypotrophic at E10.5
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• hypotrophic fourth arch at E10.5
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• hypotrophic at E10.5
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• hypotrophic fourth arch at E10.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• double heterozygous newborns show malformations in the aortic arch-derived arterial tree at a frequency similar to that observed in mice heterozygous for Tbx1tm1Pa (27% vs 25%, respectively)
• notably, pharyngeal glands appear unaffected in both groups of mice
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• double heterozygous newborns show malformations in the aortic arch-derived arterial tree at a frequency similar to that observed in mice heterozygous for Tbx1tm1Pa (27% vs 25%, respectively)
• notably, pharyngeal glands appear unaffected in both groups of mice
|
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• double heterozygous newborns show malformations in the aortic arch-derived arterial tree at a frequency similar to that observed in mice heterozygous for Tbx1tm1Pa (27% vs 25%, respectively)
• notably, pharyngeal glands appear unaffected in both groups of mice
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 01/06/2026 MGI 6.24 |
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