Phenotypes Associated with This Genotype

Genotype
MGI:7572557

• Allelic Composition: Ift88^tm1Bky/Ift88^tm1Rpw; Tg(Col1a1-cre)1Bek/0
• Genetic Background: involves: 129 * 129P2/OlaHsd * CD-1

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

cardiovascular system

persistent truncus arteriosus ( J:308860 )

• in 1 embryo at E14.5-E15.5

abnormal dorsal mesocardium morphology ( J:308860 )

• at E9.5, appears wider and contains excessive extracellular matrix and mesenchyme

• the pulmonary pit is not well defined

double outlet right ventricle ( J:308860 )

• at E14.5-15.5

anomalous pulmonary venous connection ( J:308860 )

• in over 75% of E14.5 embryos the common pulmonary venous return is not properly positioned in the left atrium

• in 2 embryos the pulmonary venous orifice is found to the right of the rudimentary primary atrial septum in the posterior right atrial wall

• in 2 embryos the pulmonary vein connects to the junctional areal between the future right superior caval vein and the right atrium

• in 3 embryos the common pulmonary vein drains very low in the right atrium close to where the left sinus horn connects to the right atrium

atrioventricular septal defect ( J:308860 )

• characterized by a primary atrial septal defect as well as ventricular septal defect

complete atrioventricular septal defect ( J:308860 )

• in some embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
scimitar syndrome		DOID:4297	OMIM:106700	J:308860