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Phenotypes Associated with This Genotype
Genotype
MGI:6275135
Allelic
Composition
Nf1tm1.1Kest/Nf1tm1c(KOMP)Wtsi
Tg(Dhh-cre)1Mejr/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * C57BL/6NTac * FVB/N
Cell Lines EPD0033_1_F12
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1.1Kest mutation (0 available); any Nf1 mutation (161 available)
Nf1tm1c(KOMP)Wtsi mutation (0 available); any Nf1 mutation (161 available)
Tg(Dhh-cre)1Mejr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• paralysis in one or both hind limbs begins at approximately 4 months of age, with 55.6% of mice showing paralysis by 5 months of age

growth/size/body

homeostasis/metabolism

immune system

integument

neoplasm
• 81.5% of mice exhibit neurofibroma tumors; tumors arise at the dorsal root ganglia, with invasion of the neural foramen and lead to compression of the spinal cord
• most tumors are detected in cervical and thoracic spine, with a lower percentage in the lumbar spine
• neurofibromas are characterized by disorganized Remak bundles and enriched deposition of collagen

nervous system
• 81.5% of mice exhibit neurofibroma tumors; tumors arise at the dorsal root ganglia, with invasion of the neural foramen and lead to compression of the spinal cord
• most tumors are detected in cervical and thoracic spine, with a lower percentage in the lumbar spine
• neurofibromas are characterized by disorganized Remak bundles and enriched deposition of collagen
• enlarged peripheral nerves
• enlarged spinal nerve roots

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis 1 DOID:0111253 OMIM:162200
J:234172


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory