Phenotypes associated with this allele

• Allele Symbol: Nf1^tm1.1Kest
• Allele Name: targeted mutation 1.1, Robert A Kesterson
• Allele ID: MGI:6153136
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nf1^tm1.1Kest/Nf1^tm1.1Kest	involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6NTac	MGI:6275130
cn2	Nf1^tm1.1Kest/Nf1^tm1c(KOMP)Wtsi Tg(Dhh-cre)1Mejr/0	involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * C57BL/6NTac * FVB/N	MGI:6275135

Genotype
MGI:6275130

hm1

• Allelic Composition: Nf1^tm1.1Kest/Nf1^tm1.1Kest
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6NTac

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:234172 )

• embryos fail to develop past E9.5

homeostasis/metabolism

pericardial effusion ( J:234172 )

• embryos display pericardial effusions at E10.5

cardiovascular system

pericardial effusion ( J:234172 )

• embryos display pericardial effusions at E10.5

Genotype
MGI:6275135

cn2

• Allelic Composition: Nf1^tm1.1Kest/Nf1^{tm1c(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

behavior/neurological

lethargy ( J:234172 )

hindlimb paralysis ( J:234172 )

• 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

weight loss ( J:234172 )

homeostasis/metabolism

dehydration ( J:234172 )

immune system

dermatitis ( J:234172 )

integument

dermatitis ( J:234172 )

neoplasm

increased neurofibroma incidence ( J:234172 )

• 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

increased neurofibroma incidence ( J:234172 )

• 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

abnormal somatic nervous system morphology ( J:234172 )

• enlarged peripheral nerves

abnormal spinal nerve morphology ( J:234172 )

• enlarged spinal nerve roots

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