All Phenotypes Tbx1<tm5Bld> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Tbx1^tm1Bld/Tbx1^tm5Bld	involves: 129S7/SvEvBrd * C57BL/6	MGI:3686780
cn2	Mesp1^tm2(cre)Ysa/Mesp1⁺ Tbx1^tm1Bld/Tbx1^tm5Bld	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3686782

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

cardiovascular system

abnormal cardiovascular system morphology ( J:112457 )

• embryos exhibit phenotypic abnormalities of the same type as those seen in Tbx1^tm1Bld homozygotes, although in some cases with a milder expressivity

abnormal pharyngeal arch artery morphology ( J:112457 )

absent fourth pharyngeal arch artery ( J:112457 )

• absent

absent sixth pharyngeal arch artery ( J:112457 )

• the 3rd and/or 6th pharyngeal arch arteries are missing in one or both sides

absent third pharyngeal arch artery ( J:112457 )

• the 3rd and/or 6th pharyngeal arch arteries are missing in one or both sides

abnormal aortic arch morphology ( J:112457 )

• aortic arch defects

persistent truncus arteriosus ( J:112457 )

ventricular septal defect ( J:112457 )

• exhibit a ventricular septal defect

craniofacial

abnormal pharyngeal arch artery morphology ( J:112457 )

absent fourth pharyngeal arch artery ( J:112457 )

• absent

abnormal fourth pharyngeal arch morphology ( J:112457 )

• lacks segmentation

small second pharyngeal arch ( J:112457 )

• exhibit variable severity of 2nd pharyngeal arch hypoplasia the 3rd, 4th, and 6th pharyngeal arches are not segmented

abnormal sixth pharyngeal arch morphology ( J:112457 )

• lacks segmentation

absent sixth pharyngeal arch artery ( J:112457 )

• the 3rd and/or 6th pharyngeal arch arteries are missing in one or both sides

abnormal third pharyngeal arch morphology ( J:112457 )

• lacks segmentation

absent third pharyngeal arch artery ( J:112457 )

• the 3rd and/or 6th pharyngeal arch arteries are missing in one or both sides

ear lobe hypoplasia ( J:112457 )

• exhibit variable severity of external ear hypoplasia

embryo

abnormal pharyngeal arch artery morphology ( J:112457 )

absent fourth pharyngeal arch artery ( J:112457 )

• absent

abnormal fourth pharyngeal arch morphology ( J:112457 )

• lacks segmentation

small second pharyngeal arch ( J:112457 )

• exhibit variable severity of 2nd pharyngeal arch hypoplasia the 3rd, 4th, and 6th pharyngeal arches are not segmented

abnormal sixth pharyngeal arch morphology ( J:112457 )

• lacks segmentation

absent sixth pharyngeal arch artery ( J:112457 )

• the 3rd and/or 6th pharyngeal arch arteries are missing in one or both sides

abnormal third pharyngeal arch morphology ( J:112457 )

• lacks segmentation

absent third pharyngeal arch artery ( J:112457 )

• the 3rd and/or 6th pharyngeal arch arteries are missing in one or both sides

hearing/vestibular/ear

ear lobe hypoplasia ( J:112457 )

• exhibit variable severity of external ear hypoplasia

hematopoietic system

athymia ( J:112457 )

• no thymus is seen except for 3 embryos that show severe hypoplasia

immune system

athymia ( J:112457 )

• no thymus is seen except for 3 embryos that show severe hypoplasia

respiratory system

pharynx hypoplasia ( J:112457 )

endocrine/exocrine glands

athymia ( J:112457 )

• no thymus is seen except for 3 embryos that show severe hypoplasia

growth/size/body

ear lobe hypoplasia ( J:112457 )

• exhibit variable severity of external ear hypoplasia

Allelic Composition	Mesp1^tm2(cre)Ysa/Mesp1⁺ Tbx1^tm1Bld/Tbx1^tm5Bld
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mesp1^tm2(cre)Ysa mutation (1 available); any Mesp1 mutation (17 available)
Tbx1^tm1Bld mutation (1 available); any Tbx1 mutation (34 available)
Tbx1^tm5Bld mutation (1 available); any Tbx1 mutation (34 available)

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

cardiovascular system

cardiovascular system phenotype ( J:112457 )

N	• exhibit rescue of the outflow tract defects, the formation and remodeling of the 3rd and 6th pharyngeal arch arteries and the hypoplasia of the 2nd pharyngeal arch

absent fourth pharyngeal arch artery ( J:112457 )

• exhibit 4th pharyngeal arch artery aplasia

• however, formation and remodeling of the 3rd and 6th pharyngeal arch arteries is rescued

craniofacial

absent fourth pharyngeal arch artery ( J:112457 )

• exhibit 4th pharyngeal arch artery aplasia

• however, formation and remodeling of the 3rd and 6th pharyngeal arch arteries is rescued

absent fourth pharyngeal arch ( J:112457 )

• exhibit 4th pharyngeal arch aplasia

• however exhibit rescue of the 2nd arch hypoplasia

embryo

absent fourth pharyngeal arch artery ( J:112457 )

• exhibit 4th pharyngeal arch artery aplasia

• however, formation and remodeling of the 3rd and 6th pharyngeal arch arteries is rescued

abnormal neural crest cell migration ( J:112457 )

• the neural crest migration and cranial nerve pathway abnormalities are only marginally improved

absent fourth pharyngeal arch ( J:112457 )

• exhibit 4th pharyngeal arch aplasia

• however exhibit rescue of the 2nd arch hypoplasia

hematopoietic system

athymia ( J:112457 )

• absent at E18.5

immune system

athymia ( J:112457 )

• absent at E18.5

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:112457 )

N	• exhbiit rescue of the external ear hypolasia

cellular

abnormal neural crest cell migration ( J:112457 )

• the neural crest migration and cranial nerve pathway abnormalities are only marginally improved

endocrine/exocrine glands

athymia ( J:112457 )

• absent at E18.5

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