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Phenotypes Associated with This Genotype
Genotype
MGI:3710236
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Pax3-cre)1Joe/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (76 available)
Tg(Pax3-cre)1Joe mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

respiratory system
• pups do not initiate normal respiration

nervous system
• increase in the number of adrenal medullary cells, suggesting pheochromocytoma
• massively enlarged sympathetic ganglia that consist of axons that stain for neurofilament and small cell bodies with large nuclei that express tyrosine hydroxylase, a morphology consistent with ganglioneuroma or ganglioneurosarcoma

endocrine/exocrine glands
• a thinning and distortion of the adrenal cortex
• increase in the number of adrenal medullary cells, suggesting pheochromocytoma

neoplasm
• develop tumors of neural crest origin such as ganglioneuroma, ganglioneurosarcoma, and pheochromocytoma

cardiovascular system
N
• normal cardiac development

Mouse Models of Human Disease
OMIM ID Ref(s)
Neurofibromatosis, Type I; NF1 162200 J:80323


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
07/12/2016
MGI 6.04
The Jackson Laboratory