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Allele Symbol Allele Name Allele ID |
Tbx1tm2.1Bem targeted mutation 2.1, Bernice E Morrow MGI:3619149 |
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| Summary |
5 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 |
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 |
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• in 9 of 20 mice
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• at E15.5, 11 of 20 mice exhibit aberrant right subclavian artery unlike wild-type mice
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• mice exhibit defects in the great vessels unlike wild-type mice
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• one mouse exhibits truncus arteriosus communis unlike wild-type mice
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• at E15.5 in one mouse
• at E18.5 in one mouse
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• in 9 of 20 mice
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• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice
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• in 9 of 20 mice
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• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice
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• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice
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• in 9 of 20 mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice do not survive beyond the neonatal period
(J:105980)
• mutants die between E18.5 and E20.5 with multiple defects of the pharyngeal apparatus
(J:109536)
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• at E17.5, mutants appear edematous
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• at E17.5, mutants display severe malformations of craniofacial bone structures
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• at E17.5, mutants display fused basisphenoid and basioccipital bones
(J:109536)
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• zygomatic arch is missing
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• hyoid bone is hypoplastic
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• mandible is shorter than in wild-type
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• middle ear is absent
(J:105980)
• at E15.5-E17.5, middle ear ossicles do not start the condensation process and thus fail to develop
(J:109536)
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• in conditional mutants, the masseter muscle is absent
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• in conditional mutants, pterygoid muscles are absent
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• observed at E17.5
(J:105980)
• at E17.5, mutants exhibit cleft palate
(J:109536)
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• at E15.5-E17.5, the pinnae do not start the condensation process and thus fail to develop
(J:109536)
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• at E15.5-E17.5, the pinnae do not start the condensation process and thus fail to develop
(J:109536)
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• at E10.5 or later
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• early otic vesicle development is normal; however, the structure is slightly hypoplastic by E10.5 and appears cystic at E17.5
• in contrast, periotic mesenchyme development appears normal
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• at E17.5, mutants display a cystic endolymphatic duct
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• at E17.5, the otic capsule is hypoplastic
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• at E17.5, mutants show complete aplasia of inner ear sensory organs
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• at E17.5, mutants exhibit severe hypoplasia of the inner ear, developing only a cystic OV and endolymphatic duct
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• at E10.5, the pharyngeal endoderm fails to invaginate toward the surface endoderm to form the tubotympanic recess, resulting in disruption of middle ear development
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• middle ear is absent
(J:105980)
• at E15.5-E17.5, middle ear ossicles do not start the condensation process and thus fail to develop
(J:109536)
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• at E10.5, the pharyngeal endoderm fails to invaginate toward the surface endoderm to form the tubotympanic recess
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• at E17.5, mutants lack tympanic rings
(J:109536)
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• pharynx in conditional null embryos is hypoplastic, lacking distal arches; the first pouch appears to be hypoplastic
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• at E17.5, mutants display severe malformations of craniofacial bone structures
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• at E17.5, mutants display fused basisphenoid and basioccipital bones
(J:109536)
|
|
• zygomatic arch is missing
|
|
• hyoid bone is hypoplastic
|
|
• mandible is shorter than in wild-type
|
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• middle ear is absent
(J:105980)
• at E15.5-E17.5, middle ear ossicles do not start the condensation process and thus fail to develop
(J:109536)
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• all null mutants have aortic arch defects
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• mutants have retroesophageal right subclavian artery
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• at E10.5 all conditional mutants display hypoplasia of the outflow tract
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• all conditional null mutants have a single outflow tract
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• in mutants the left ventricle communicates with the right through a large VSD
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• thyroid glands are smaller than wild-type and ectopically placed in conditional null embryos while conditional heterozygous embryos have ectopically placed thyroid glands
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• in conditional mutants, the masseter muscle is absent
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• in conditional mutants, pterygoid muscles are absent
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• observed at E17.5
(J:105980)
• at E17.5, mutants exhibit cleft palate
(J:109536)
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• at E10.5, the otic vesicle is surrounded by an expanded cochleovestibular ganglion rudiment
• at E11.5, the cochleovestibular ganglion is duplicated around the otic vesicle anterior-posterior midline
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• at E10.5, the first pharyngeal pouch fails to outgrow, preventing middle ear bone condensations
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• at E17.5, mutants appear edematous
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• in conditional mutants, the masseter muscle is absent
|
|
• in conditional mutants, pterygoid muscles are absent
|
|
• observed at E17.5
(J:105980)
• at E17.5, mutants exhibit cleft palate
(J:109536)
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• at E15.5-E17.5, the pinnae do not start the condensation process and thus fail to develop
(J:109536)
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:105980 , J:109536 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E10.5
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• early otic vesicle development is normal; however, the structure is hypoplastic at E10.5
• in contrast, periotic mesenchyme development appears normal
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• at E17.5, 12 of 16 mutant ears show complete failure of inner ear development while the remaining appear completely normal
• in contrast, formation of the otic capsule and development of middle ear ossicles and pinnae is clearly normal at E17.5 and in adulthood
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• in 12 of 16 mutant inner ears
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• in 12 of 16 mutant inner ears
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• in 12 of 16 mutant inner ears
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• at E17.5, 6 of 8 mutants show complete aplasia of inner ear sensory organs
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• at E17.5, 6 of 8 mutant embryos display a severely hypoplastic inner ear
• severe hypoplasia is bilateral and present in 12/16 mutant ears
• at E17.5, the inner ear persists in a rudimentary otic vesicle stage
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• 3 of 5 adults exhibit no hearing on either the left or right side, as determined by auditory brainstem response testing
• the remaining two adults display normal hearing, consistent with the incomplete penetrance of the inner ear phenotype noted at E17.5
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• in 3 of 5 adult mutants
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• at E10.5, a smaller otic vesicle is surrounded by an expanded cochleovestibular ganglion
• at E11.5, the cochleovestibular ganglion is duplicated around the otic vesicle anterior-posterior midline
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| N |
• at E10.5, mutants show normal invagination of the pharyngeal endoderm to form the future tubotympanic recess
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| N |
• mutants survive in normal Mendelian ratios through adulthood and show normal craniofacial bone development at E17.5
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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 04/09/2024 MGI 6.23 |
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