Phenotypes Associated with This Genotype

Genotype
MGI:3611260

• Allelic Composition: Fgf8^tm1.4Mrt/Fgf8⁺; Tbx1^tm1Bld/Tbx1⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * ICR

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

cardiovascular system

abnormal fourth pharyngeal arch artery morphology ( J:78686 )

• all aortic arch patterning defects observed at E18.5 are attributable to a failure of the fourth pharyngeal arch artery (PAA) development evident at E10.5; the third and sixth PAAs appear normal

• the number of arteries scored as non-patent to ink (i.e. 'absent' fourth PAA) are significantly higher in double heterozygotes than in embryos heterozygous for Tbx1^tm1Bld alone

abnormal aortic arch morphology ( J:78686 )

abnormal aortic arch development ( J:78686 )

• at E18.5, 18 out of 36 (50%) of double heterozygotes exhibit aortic arch patterning defects vs 27% of mice heterozygous for Tbx1^tm1Bld alone

cervical aortic arch ( J:78686 )

• three show A-RSA associated with a cervical aortic arch

interrupted aortic arch, type b ( J:78686 )

• eight of these 18 double heterozygotes exhibit interruption of the aortic arch type B (IAA-B, occurring between the left common carotid artery and the left subclavian artery) associated with a right aortic arch (RAA)

right aortic arch ( J:78686 )

• eight of these 18 double heterozygotes exhibit interruption of the aortic arch type B (IAA-B, occurring between the left common carotid artery and the left subclavian artery) associated with a right aortic arch (RAA)

immune system

thymus hypoplasia ( J:78686 )

• at E18.5, 14 of 30 double heterozygotes exhibit thymic hypoplasia and/or lobe asymmetry

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:78686 )

• all aortic arch patterning defects observed at E18.5 are attributable to a failure of the fourth pharyngeal arch artery (PAA) development evident at E10.5; the third and sixth PAAs appear normal

• the number of arteries scored as non-patent to ink (i.e. 'absent' fourth PAA) are significantly higher in double heterozygotes than in embryos heterozygous for Tbx1^tm1Bld alone

embryo

abnormal fourth pharyngeal arch artery morphology ( J:78686 )

• all aortic arch patterning defects observed at E18.5 are attributable to a failure of the fourth pharyngeal arch artery (PAA) development evident at E10.5; the third and sixth PAAs appear normal

• the number of arteries scored as non-patent to ink (i.e. 'absent' fourth PAA) are significantly higher in double heterozygotes than in embryos heterozygous for Tbx1^tm1Bld alone

hematopoietic system

thymus hypoplasia ( J:78686 )

• at E18.5, 14 of 30 double heterozygotes exhibit thymic hypoplasia and/or lobe asymmetry

endocrine/exocrine glands

thymus hypoplasia ( J:78686 )

• at E18.5, 14 of 30 double heterozygotes exhibit thymic hypoplasia and/or lobe asymmetry