About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2451311
Allelic
Composition
Pax3Sp-2H/Pax3Sp-2H
Genetic
Background
involves: 101 * C3H/He * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp-2H mutation (2 available); any Pax3 mutation (31 available)
phenotype observed in females
phenotype observed in males
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

embryo
• 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
• 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)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/17/2016
MGI 6.03
The Jackson Laboratory