Phenotypes Associated with This Genotype

Genotype
MGI:5297327

• Allelic Composition: Eya1^tm1Rilm/Eya1^tm1Rilm
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

Spectrum of abnormalities of great artery patterning in mice with null mutation of one or both copies of Six1^tm1Mair and Eya1^tm1Rilm

cardiovascular system

abnormal aortic arch morphology ( J:172023 )

• 78% if embryos display aortic arch defects

retroesophageal right subclavian artery ( J:172023 )

• in 23% of embryos

interrupted aortic arch, type b ( J:172023 )

• 54% of embryos show interrupted aortic arch type B defects (IAA-B)

vascular ring ( J:172023 )

• in 16% of embryos

craniofacial

abnormal craniofacial development ( J:172023 )

• craniofacial phenotypes are observed, but are milder than in Six1 null embryos

muscle

abnormal skeletal muscle morphology ( J:172023 )

• embryos have severely hypolplastic branchiomeric muscles