Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm2.2Bem mutation
(0 available);
any
Tbx1 mutation
(34 available)
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mortality/aging
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• mice do not survive beyond the neonatal period
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craniofacial
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• null mutants lack 2nd pharyngeal arch-derived facial muscles
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cardiovascular system
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• in mutants the left ventricle communicates with the right through a large VSD
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growth/size/body
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• null mutants lack 2nd pharyngeal arch-derived facial muscles
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muscle
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• null mutants lack 2nd pharyngeal arch-derived facial muscles
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxg1tm1(cre)Skm mutation
(2 available);
any
Foxg1 mutation
(28 available)
Tbx1tm2.1Bem mutation
(0 available);
any
Tbx1 mutation
(34 available)
Tbx1tm2.2Bem mutation
(0 available);
any
Tbx1 mutation
(34 available)
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mortality/aging
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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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homeostasis/metabolism
craniofacial
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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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hearing/vestibular/ear
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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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• 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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respiratory system
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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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skeleton
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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
|
|
• 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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cardiovascular system
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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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endocrine/exocrine glands
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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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immune system
muscle
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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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hematopoietic system
digestive/alimentary system
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• observed at E17.5
(J:105980)
• at E17.5, mutants exhibit cleft palate
(J:109536)
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nervous system
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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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embryo
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• at E10.5, the first pharyngeal pouch fails to outgrow, preventing middle ear bone condensations
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integument
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• at E17.5, mutants appear edematous
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growth/size/body
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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)
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm2.1Bem mutation
(0 available);
any
Tbx1 mutation
(34 available)
Tbx1tm2.2Bem mutation
(0 available);
any
Tbx1 mutation
(34 available)
Tg(Pax2-cre)1Akg mutation
(2 available)
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hearing/vestibular/ear
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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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nervous system
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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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embryo
N |
• at E10.5, mutants show normal invagination of the pharyngeal endoderm to form the future tubotympanic recess
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craniofacial
N |
• mutants survive in normal Mendelian ratios through adulthood and show normal craniofacial bone development at E17.5
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