Phenotypes Associated with This Genotype

Genotype
MGI:3640317

• Allelic Composition: Tbx1^tm1Bld/Tbx1^tm1Bld
• Genetic Background: involves: 129S7/SvEvBrd

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

Cleft palate, absent thymus and ear and cardiovascular abnormalities in Tbx1^tm1Bld/Tbx1^tm1Bld mice

craniofacial

absent sixth pharyngeal arch artery ( J:67409 )

• absent

absent third pharyngeal arch artery ( J:67409 )

• absent

abnormal palatal shelf fusion at midline ( J:110378 )

• Background Sensitivity: only 57% of mice on a 129S7/SvEvBrd background display complete lack of fusion of palatal shelves, while in 21% the palate is closed, and is almost completely closed in another 21%

abnormal fourth pharyngeal arch morphology ( J:110378 )

• hypoplastic at E10.5

absent fourth pharyngeal arch artery ( J:67409 )

• absent

small second pharyngeal arch ( J:67409 )

cleft palate ( J:146769 )

abnormal outer ear morphology ( J:146769 )

digestive/alimentary system

abnormal palatal shelf fusion at midline ( J:110378 )

• Background Sensitivity: only 57% of mice on a 129S7/SvEvBrd background display complete lack of fusion of palatal shelves, while in 21% the palate is closed, and is almost completely closed in another 21%

cleft palate ( J:146769 )

cardiovascular system

absent fourth pharyngeal arch artery ( J:67409 )

• absent

absent sixth pharyngeal arch artery ( J:67409 )

• absent

absent third pharyngeal arch artery ( J:67409 )

• absent

persistent truncus arteriosus ( J:146769 )

embryo

absent sixth pharyngeal arch artery ( J:67409 )

• absent

absent third pharyngeal arch artery ( J:67409 )

• absent

abnormal fourth pharyngeal arch morphology ( J:110378 )

• hypoplastic at E10.5

absent fourth pharyngeal arch artery ( J:67409 )

• absent

small second pharyngeal arch ( J:67409 )

cellular

increased apoptosis ( J:159824 )

• at E16.5 but not E14.5, mice exhibit an increase in apoptosis adjacent to the mesenteric artery unlike in wild-type mice

homeostasis/metabolism

skin edema ( J:159824 )

• at E14.5

immune system

athymia ( J:146769 )

abnormal lymphatic vessel morphology ( J:159824 )

• at E18.5, mice exhibit fewer mesenteric lymph vessels in the gastrointestinal tract, diaphragm, skin, and heart compared with wild-type mice

abnormal lymphangiogenesis ( J:159824 )

• development of gastrointestinal lymphatic vasculature fails unlike in wild-type mice

lymphangiectasis ( J:159824 )

integument

skin edema ( J:159824 )

• at E14.5

hearing/vestibular/ear

abnormal ear morphology ( J:204435 )

• lack of all discernible vestibular and auditory structures except for enlarged endolymphatic ducts

abnormal outer ear morphology ( J:146769 )

abnormal inner ear morphology ( J:146769 )

abnormal endolymphatic duct morphology ( J:204435 )

• enlarged at E14.5

hematopoietic system

athymia ( J:146769 )

endocrine/exocrine glands

athymia ( J:146769 )

growth/size/body

abnormal palatal shelf fusion at midline ( J:110378 )

• Background Sensitivity: only 57% of mice on a 129S7/SvEvBrd background display complete lack of fusion of palatal shelves, while in 21% the palate is closed, and is almost completely closed in another 21%

cleft palate ( J:146769 )

abnormal outer ear morphology ( J:146769 )