Phenotypes Associated with This Genotype

Genotype
MGI:5426861

• Allelic Composition: Nprl3^tm1.1Drhi/Nprl3^tm1.1Drhi
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:183988 )

• die between E15.5 and E18.5

cardiovascular system

abnormal pulmonary artery morphology ( J:183988 )

• right-sided pulmonary artery

abnormal aortic arch morphology ( J:183988 )

interrupted aortic arch ( J:183988 )

right aortic arch ( J:183988 )

abnormal hepatic vein morphology ( J:183988 )

• dilated

abnormal heart development ( J:183988 )

• disrupted condensation of the myocardium

abnormal heart and great artery attachment ( J:183988 )

double outlet right ventricle ( J:183988 )

overriding aortic valve ( J:183988 )

enlarged heart ( J:183988 )

• dramatically enlarged

abnormal heart ventricle morphology ( J:183988 )

• abnormal structure

abnormal ventricle myocardium morphology ( J:183988 )

• disorganized

myocardial ventricular hypertrabeculation ( J:183988 )

• hypertrophic with deep intertrabecular recesses in the left ventricle

ventricular septal defect ( J:183988 )

ventricular hypoplasia ( J:183988 )

• severely hypoplastic

thin ventricle myocardium compact layer ( J:183988 )

• the compact muscle layer is almost absent

dilated heart ventricle ( J:183988 )

pericardial edema ( J:183988 )

hemorrhage ( J:183988 )

• most embryos have hemorrhages and fragmented vasculature

homeostasis/metabolism

edema ( J:183988 )

• generalized edema is frequently seen

pericardial edema ( J:183988 )

nuchal edema ( J:183988 )

• in some cases nuchal translucency is seen

craniofacial

cleft palate ( J:183988 )

immune system

abnormal lymph organ development ( J:183988 )

• large bilateral cysts in jugular lymphatic sacs

liver/biliary system

herniated liver ( J:183988 )

• frequently seen

embryo

umbilical hernia ( J:183988 )

• defects in body wall closure producing small to large forms of umbilical hernia in many embryos

growth/size/body

enlarged heart ( J:183988 )

• dramatically enlarged

cleft palate ( J:183988 )

abnormal body wall morphology ( J:183988 )

• in some embryos there is a complete failure to close the ventral body wall and thoracic cavity

nuchal edema ( J:183988 )

• in some cases nuchal translucency is seen

decreased fetal size ( J:183988 )

• appear slightly smaller at E15.5

integument

nuchal edema ( J:183988 )

• in some cases nuchal translucency is seen

pallor ( J:183988 )

• at E15.5

muscle

abnormal ventricle myocardium morphology ( J:183988 )

• disorganized

myocardial ventricular hypertrabeculation ( J:183988 )

• hypertrophic with deep intertrabecular recesses in the left ventricle

thin ventricle myocardium compact layer ( J:183988 )

• the compact muscle layer is almost absent

digestive/alimentary system

cleft palate ( J:183988 )