Phenotypes Associated with This Genotype

Genotype
MGI:2175141

• Allelic Composition: Nf1^tm1Fcr/Nf1^tm1Fcr
• Genetic Background: either: (involves: 129S/SvEv) or (involves: 129S/SvEv * C57BL/6J)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:18048 )

• all die by E14.5

cellular

focal hepatic necrosis ( J:18048 )

• seen at E13.5

cardiovascular system

abnormal vein morphology ( J:18048 )

• show distended veins

blood vessel congestion ( J:18048 )

disorganized myocardium ( J:18048 )

• show disoriented and poorly developed myocardial fibers

persistent truncus arteriosus ( J:18048 )

• at E13.5, have a common root of the aorta and pulmonary artery departing from the conus cordis of the right ventricle

• as the truncus proceeds cephalad, it divides into two channels, the pulmonary artery and the aorta, which are not fully separate and are joined in a common external sheath

abnormal heart development ( J:18048 )

abnormal fetal atrioventricular canal morphology ( J:18048 )

• at E13.5, the atrioventricular canal is composed of loosely arranged endothelial cells that lack the typical cellular density

abnormal atrioventricular cushion morphology ( J:18048 )

• E13.5 endocardial cushion retains a loose, myxoid appearance that is seen at E12 in wild-type, even though it merges and divides the atrioventricular canal into the left and right channels

increased atrioventricular cushion size ( J:18048 )

• considerably larger at E13.5

ventricular septal defect ( J:18048 )

• exhibit only a rudimentary septum near the apex that is exculsively muscular

globular heart ( J:18048 )

heart hypoplasia ( J:18048 )

abnormal heart valve morphology ( J:18048 )

• cardiac valve abnormalities at E13.5

abnormal mitral valve cusp morphology ( J:18048 )

• leaflets of the mitral valve remain poorly condensed at E13.5

pericardial effusion ( J:18048 )

liver hemorrhage ( J:18048 )

• seen at E13.5

liver/biliary system

liver hemorrhage ( J:18048 )

• seen at E13.5

focal hepatic necrosis ( J:18048 )

• seen at E13.5

delayed hepatic development ( J:18048 )

• 18- to 24-hr delay in hepatic development

liver hypoplasia ( J:18048 )

• seen at E13.5

pale liver ( J:18048 )

muscle

abnormal muscle morphology ( J:18048 )

• musculature of the stomach, the three layers of the abdominal musculature, and the muscles of the shoulder girdle are thinner

disorganized myocardium ( J:18048 )

• show disoriented and poorly developed myocardial fibers

delayed muscle development ( J:18048 )

• 18- to 24-hour delay in development of skeletal muscle

skeletal muscle hypoplasia ( J:18048 )

• skeletal muscle throughout the body is hypoplastic at E13.5

renal/urinary system

decreased renal glomerulus number ( J:18048 )

• reduced number of glomeruli at E13.5, due to developmental delay

abnormal metanephros morphology ( J:18048 )

• a retardation of cephalad repositioning is noted at E13.5

delayed kidney development ( J:18048 )

• 18- to 24-hr delay in renal development

• in the metanephros, display a retardation of cephalad repositioning at E13.5

vision/eye

microphthalmia ( J:18048 )

nervous system

paravertebral ganglia hyperplasia ( J:18048 )

prevertebral ganglia hyperplasia ( J:18048 )

exencephaly ( J:18048 )

• seen in about 6.3% of homozygotes

growth/size/body

enlarged chest ( J:18048 )

• display a chest bulge

megacephaly ( J:18048 )

homeostasis/metabolism

pericardial effusion ( J:18048 )

edema ( J:18048 )

• systemic edema

pleural effusion ( J:18048 )

immune system

abnormal lymphatic vessel morphology ( J:18048 )

• show distended lymphatics

respiratory system

pleural effusion ( J:18048 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:18048