Mouse Genome Informatics
hm
    Pax3Sp-2H/Pax3Sp-2H
involves: 101 * C3H/He * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most embryos die by E14.5 though 15 % live until birth

nervous system
• 80% of mutants develop neural tube defects
• 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)
• three quarters of embryos develop exencephaly from improper neural tube closure (J:46341)

cardiovascular system
• 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
• a small septal defect is visible in the upper part of the ventricular septum with E13.5 embryos with persistent truncus arteriosis
• in E13.5 embryos that have persistent truncus arteriosis
• in E13.5 embryos that have persistent truncus arteriosis
• left ventricular ejection fraction is reduced by almost two-thirds in E13.5 embryos that have persistent truncus arteriosis
• 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
• left ventricular ejection fraction is reduced by almost two-thirds in E13.5 embryos that have persistent truncus arteriosis

embryogenesis
• these embryos later in development fail to close their neural tubes
• neural folds in 76% of embryos fail to adopt a concave appearance and instead remain in a convex shape
• 80% of mutants develop neural tube defects
• 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)

Mouse Models of Human Disease
OMIM IDRef(s)
Waardenburg Syndrome, Type 1; WS1 193500 J:46341
NOT Waardenburg Syndrome, Type 3; WS3 148820 J:46341