Phenotypes Associated with This Genotype

Genotype
MGI:3689403

cn12

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; Isl1^tm1(cre)Sev/Isl1⁺
• Genetic Background: involves: 129S/Sv * 129X1/SvJ

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

mortality/aging

perinatal lethality ( J:110602 )

cardiovascular system

abnormal sixth pharyngeal arch artery morphology ( J:110602 )

• E10 embryos show an absence of the left 6th aortic arch although the right 6th arch is normal

abnormal aortic arch morphology ( J:110602 )

right aortic arch ( J:110602 )

abnormal cardiac outflow tract development ( J:110602 )

• outflow tracts are shortened by about 17%, 18% and 22% at E10.5, E11.5, and E12.5, respectively

• exhibit increased apoptosis in outflow tract myocardium at E10

persistent truncus arteriosus ( J:110602 )

• seen in 19 of 20 mutants at E18.5

transposition of great arteries ( J:110602 )

• seen in 1 of 20 mutants at E18.5

atrial septal defect ( J:110602 )

• E12.5 and E18.5 hearts show atrial septal defects

ventricular septal defect ( J:110602 )

• ventricular septal defects

embryo

abnormal sixth pharyngeal arch artery morphology ( J:110602 )

• E10 embryos show an absence of the left 6th aortic arch although the right 6th arch is normal

abnormal cardiac neural crest cell migration ( J:110602 )

• marker analysis indicates that cardiac neural crest cells are present in the pharyngeal arches and the outflow tract but do not penetrate the outflow tract to the same extent as in wild-type

craniofacial

abnormal sixth pharyngeal arch artery morphology ( J:110602 )

• E10 embryos show an absence of the left 6th aortic arch although the right 6th arch is normal

cellular

abnormal cardiac neural crest cell migration ( J:110602 )

• marker analysis indicates that cardiac neural crest cells are present in the pharyngeal arches and the outflow tract but do not penetrate the outflow tract to the same extent as in wild-type