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Phenotypes Associated with This Genotype
Genotype
MGI:3586912
Allelic
Composition
Tbx1tm1Pa/Tbx1tm1Pa
Genetic
Background
either: (involves: 129) or (involves: 129 * C57BL/6) or (involves: 129 * C57BL/6 * Swiss Webster)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Pa mutation (2 available); any Tbx1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous embryos are present in normal numbers 1 day before birth but following Caesarian section fail to inflate their lungs

embryo
• at E8.5, E9.5, E10.5 and E12.5 only the first pharyngeal arch is present unlike in wild-type mice where four pharyngeal arches are present by E10.5
• abnormalities are found in derivatives of all of the pharyngeal arch structures
• at E11.5 only a single large aortic arch is present on each side; however, small pulmonary arteries are present
• at E8.5, E9.5, E10.5 and E12.5 only the first pharyngeal pouch is present unlike in wild-type mice where where four pharyngeal pouches are present by E10.5

craniofacial
• the basioccipital and basispenoid bones are fused
• the zygomatic arch is abnormal
• the mandible lacks the coronoid process
• the mandible is disproportionately short
• at E8.5, E9.5, E10.5 and E12.5 only the first pharyngeal arch is present unlike in wild-type mice where four pharyngeal arches are present by E10.5
• abnormalities are found in derivatives of all of the pharyngeal arch structures
• at E11.5 only a single large aortic arch is present on each side; however, small pulmonary arteries are present
• homozygotes have abnormal facial structures
• the upper incisors are missing or malformed in 3 of 10 homozygotes
• the bony elements of the palatine and maxillary shelves never fuse
• at E17.5, there is variable fusion of the epithelium of the palatal shelves from nearly complete fusion to no fusion at all
• when present outer ears are low set and abnormally folded
• when present outer ears are low set and abnormally folded

hearing/vestibular/ear
• when present outer ears are low set and abnormally folded
• when present outer ears are low set and abnormally folded
• at E9.5, the otic vesicle appears smaller and thickened
• semicircular canals are poorly developed

cardiovascular system
• at E11.5 only a single large aortic arch is present on each side; however, small pulmonary arteries are present
• 2 of 12 homozygotes had right aortic arches
• 1 of 12 homozygotes had a double aortic arch
• at E12.5 the aorticopulmonary septum is absent

immune system
• at E10.5 and E12.5, the thymus and parathyroid primordia are absent

endocrine/exocrine glands
• the parathyroid gland is absent but the thyroid gland is present
• at E10.5 and E12.5, the thymus and parathyroid primordia are absent

homeostasis/metabolism
• late term and neonatal homozygotes appear edematous

respiratory system
• at E14.5 and E17.5, the cricoid cartilage is small and fragmentary
• at E14.5 and E17.5, the thyroid cartilage is small and fragmentary
• at E10.5 and E12.5 the pharynx is narrow and constricted laterally
• after a Caesarian homozygotes display a gasping reflex but fail to inflate their lungs

skeleton
• the basioccipital and basispenoid bones are fused
• the zygomatic arch is abnormal
• the upper incisors are missing or malformed in 3 of 10 homozygotes
• the mandible lacks the coronoid process
• the mandible is disproportionately short
• at E14.5 and E17.5, the cricoid cartilage is small and fragmentary
• at E14.5 and E17.5, the thyroid cartilage is small and fragmentary
• the atlas lacks the anterior arch

growth/size/body
• homozygotes have abnormal facial structures
• the upper incisors are missing or malformed in 3 of 10 homozygotes
• the bony elements of the palatine and maxillary shelves never fuse
• at E17.5, there is variable fusion of the epithelium of the palatal shelves from nearly complete fusion to no fusion at all
• when present outer ears are low set and abnormally folded
• when present outer ears are low set and abnormally folded
• homozygotes have a short neck region

hematopoietic system
• at E10.5 and E12.5, the thymus and parathyroid primordia are absent

digestive/alimentary system
• the bony elements of the palatine and maxillary shelves never fuse
• at E17.5, there is variable fusion of the epithelium of the palatal shelves from nearly complete fusion to no fusion at all


Contributing Projects:
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
06/12/2024
MGI 6.13
The Jackson Laboratory