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Phenotypes Associated with This Genotype
either: (involves: 129S/SvEv) or (involves: 129S/SvEv * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Fcr mutation (3 available); any Nf1 mutation (96 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

cardiovascular system
• show distended veins
• 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
• at E13.5, the atrioventricular canal is composed of loosely arranged endothelial cells that lack the typical cellular density
• 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
• considerably larger at E13.5
• show disoriented and poorly developed myocardial fibers
• exhibit only a rudimentary septum near the apex that is exculsively muscular
• globular heart
• cardiac valve abnormalities at E13.5
• leaflets of the mitral valve remain poorly condensed at E13.5
• seen at E13.5

liver/biliary system
• seen at E13.5
• 18- to 24-hr delay in hepatic development
• seen at E13.5
• seen at E13.5

• musculature of the stomach, the three layers of the abdominal musculature, and the muscles of the shoulder girdle are thinner
• 18- to 24-hour delay in development of skeletal muscle
• skeletal muscle throughout the body is hypoplastic at E13.5

renal/urinary system
• reduced number of glomeruli at E13.5, due to developmental delay
• a retardation of cephalad repositioning is noted at E13.5
• 18- to 24-hr delay in renal development
• in the metanephros, display a retardation of cephalad repositioning at E13.5


nervous system
• seen in about 6.3% of homozygotes

• display a chest bulge

• systemic edema

immune system
• show distended lymphatics

respiratory system

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis DOID:8712 OMIM:101000

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.11
The Jackson Laboratory