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Phenotypes Associated with This Genotype
Genotype
MGI:2175141
Allelic
Composition
Nf1tm1Fcr/Nf1tm1Fcr
Genetic
Background
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 (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all die by E14.5 (J:18048)
• all die by E14.5 (J:18048)

cardiovascular system
• show distended veins (J:18048)
• show distended veins (J:18048)
• at E13.5, the atrioventricular canal is composed of loosely arranged endothelial cells that lack the typical cellular density (J:18048)
• at E13.5, the atrioventricular canal is composed of loosely arranged endothelial cells that lack the typical cellular density (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 (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 (J:18048)
• considerably larger at E13.5 (J:18048)
• considerably larger at E13.5 (J:18048)
• at E13.5, have a common root of the aorta and pulmonary artery departing from the conus cordis of the right ventricle (J:18048)
• 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 (J:18048)
• at E13.5, have a common root of the aorta and pulmonary artery departing from the conus cordis of the right ventricle (J:18048)
• 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 (J:18048)
• show disoriented and poorly developed myocardial fibers (J:18048)
• show disoriented and poorly developed myocardial fibers (J:18048)
• exhibit only a rudimentary septum near the apex that is exculsively muscular (J:18048)
• exhibit only a rudimentary septum near the apex that is exculsively muscular (J:18048)
• globular heart (J:18048)
• globular heart (J:18048)
• cardiac valve abnormalities at E13.5 (J:18048)
• cardiac valve abnormalities at E13.5 (J:18048)
• leaflets of the mitral valve remain poorly condensed at E13.5 (J:18048)
• leaflets of the mitral valve remain poorly condensed at E13.5 (J:18048)
• seen at E13.5 (J:18048)
• seen at E13.5 (J:18048)

liver/biliary system
• seen at E13.5 (J:18048)
• seen at E13.5 (J:18048)
• 18- to 24-hr delay in hepatic development (J:18048)
• 18- to 24-hr delay in hepatic development (J:18048)
• seen at E13.5 (J:18048)
• seen at E13.5 (J:18048)
• seen at E13.5 (J:18048)
• seen at E13.5 (J:18048)

muscle
• musculature of the stomach, the three layers of the abdominal musculature, and the muscles of the shoulder girdle are thinner (J:18048)
• musculature of the stomach, the three layers of the abdominal musculature, and the muscles of the shoulder girdle are thinner (J:18048)
• 18- to 24-hour delay in development of skeletal muscle (J:18048)
• 18- to 24-hour delay in development of skeletal muscle (J:18048)
• skeletal muscle throughout the body is hypoplastic at E13.5 (J:18048)
• skeletal muscle throughout the body is hypoplastic at E13.5 (J:18048)

renal/urinary system
• reduced number of glomeruli at E13.5, due to developmental delay (J:18048)
• reduced number of glomeruli at E13.5, due to developmental delay (J:18048)
• a retardation of cephalad repositioning is noted at E13.5 (J:18048)
• a retardation of cephalad repositioning is noted at E13.5 (J:18048)
• 18- to 24-hr delay in renal development (J:18048)
• in the metanephros, display a retardation of cephalad repositioning at E13.5 (J:18048)
• 18- to 24-hr delay in renal development (J:18048)
• in the metanephros, display a retardation of cephalad repositioning at E13.5 (J:18048)

vision/eye

nervous system
• seen in about 6.3% of homozygotes (J:18048)
• seen in about 6.3% of homozygotes (J:18048)

growth/size/body
• display a chest bulge (J:18048)
• display a chest bulge (J:18048)

homeostasis/metabolism
• systemic edema (J:18048)
• systemic edema (J:18048)

immune system
• show distended lymphatics (J:18048)
• show distended lymphatics (J:18048)

respiratory system

Mouse Models of Human Disease
OMIM ID Ref(s)
Neurofibromatosis, Type I; NF1 162200 J:18048


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
02/02/2016
MGI 6.02
The Jackson Laboratory