Phenotypes Associated with This Genotype

Genotype
MGI:2451311

• Allelic Composition: Pax3^Sp-2H/Pax3^Sp-2H
• Genetic Background: involves: 101 * C3H/He * CBA/Ca

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:46341 )

• most embryos die by E14.5 though 15 % live until birth

nervous system

abnormal neural tube morphology ( J:60939 )

• 80% of mutants develop neural tube defects

open neural tube ( J:46341 , J:60939 )

• 76% of embryos fail to close their neural tubes in culture (J:46341)

• 16 of 21 embryos exhibit a failure of the midbrain neural folds to adopt a concave morphology, remaining convex, resulting in an open neural tube (J:60939)

spina bifida ( J:60939 )

exencephaly ( J:46341 , J:60939 )

• three quarters of embryos develop exencephaly from improper neural tube closure (J:46341)

cardiovascular system

persistent truncus arteriosus ( J:46341 )

• 85% of E13.5 embryos display persistent truncus arteriosis (PTA)

• embryos with PTA display only one outflow tract vessel that rises predominately from the right ventricle

• the trunk appears slightly larger than the pulmonary artery of control embryos

ventricular septal defect ( J:46341 )

• a small septal defect is visible in the upper part of the ventricular septum with E13.5 embryos with persistent truncus arteriosis

dilated heart left ventricle ( J:46341 )

• in E13.5 embryos that have persistent truncus arteriosis

dilated heart right ventricle ( J:46341 )

• in E13.5 embryos that have persistent truncus arteriosis

decreased heart left ventricle muscle contractility ( J:46341 )

• left ventricular ejection fraction is reduced by almost two-thirds in E13.5 embryos that have persistent truncus arteriosis

abnormal myocardial fiber physiology ( J:46341 )

• isolated monocytes from embryonic hearts with PTA have a three-fold reduction in calcium transients

• monocytes isolated from embryos without PTA have normal calcium transients

muscle

decreased heart left ventricle muscle contractility ( J:46341 )

• left ventricular ejection fraction is reduced by almost two-thirds in E13.5 embryos that have persistent truncus arteriosis

embryo

abnormal neural fold elevation formation ( J:46341 )

• neural folds in 76% of embryos fail to adopt a concave appearance and instead remain in a convex shape

• these embryos later in development fail to close their neural tubes

abnormal neural tube morphology ( J:60939 )

• 80% of mutants develop neural tube defects

open neural tube ( J:46341 , J:60939 )

• 76% of embryos fail to close their neural tubes in culture (J:46341)

• 16 of 21 embryos exhibit a failure of the midbrain neural folds to adopt a concave morphology, remaining convex, resulting in an open neural tube (J:60939)

spina bifida ( J:60939 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 1		DOID:0110948	OMIM:193500	J:46341
NOT	Waardenburg syndrome type 3	DOID:0110949	OMIM:148820	J:46341