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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nf1tm1Tyj
targeted mutation 1, Tyler Jacks
MGI:1857478
Summary 32 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nf1tm1Tyj/Nf1tm1Tyj involves: 129S2/SvPas MGI:3775926
hm2
Nf1tm1Tyj/Nf1tm1Tyj involves: 129S2/SvPas * C57BL/6 MGI:2175143
ht3
Nf1tm1Tyj/Nf1+ involves: 129S2/SvPas MGI:3834705
ht4
Nf1tm1Tyj/Nf1+ involves: 129S2/SvPas * C57BL/6 MGI:2175144
ht5
Nf1tm1Tyj/Nf1+ involves: 129S2/SvPas * C57BL/6J MGI:3580056
ht6
Nf1tm1Tyj/Nf1tm2Tyj chimera involves: 129S2/SvPas MGI:5313434
cn7
Nf1tm1Par/Nf1tm1Tyj
Tg(Postn-cre)1Sjc/0
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ MGI:3776057
cn8
Nf1tm1Par/Nf1tm1Tyj
Tg(Wnt1-cre)11Rth/0
involves: 129/Sv * C57BL/6 * CBA MGI:3776056
cn9
Nf1tm1Par/Nf1tm1Tyj
Tg(P0-Cre)1Gth/0
involves: 129/Sv * FVB/N MGI:3776064
cx10
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
B6.129S2-Trp53tm1Tyj Nf1tm1Tyj/+ + MGI:5286078
cx11
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
(C3H/HeJ x B6.129S2-Trp53tm1Tyj Nf1tm1Tyj/+ +)F1 MGI:5286079
cx12
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
(CAST/EiJ x B6.129S2-Trp53tm1Tyj Nf1tm1Tyj/+ +)F1 MGI:5286080
cx13
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
(CBA/J x B6.129S2-Trp53tm1Tyj Nf1tm1Tyj/+ +)F1 MGI:5286081
cx14
Nf1tm1Tyj/Nf1tm1Tyj
Rasa1tm1Paw/Rasa1tm1Paw
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1) MGI:3040176
cx15
Cpt1cGt(XL823)Byg/Cpt1c+
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 MGI:5790202
cx16
Nf1tm1Tyj/Nf1+
Suz12Gt(Betageo)1Khe/Suz12+
Trp53tm1Tyj/Trp53+
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 MGI:5699874
cx17
Nf1tm1Tyj/Nf1+
Suz12Gt(Betageo)1Khe/Suz12+
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 MGI:5699877
cx18
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
involves: 129S2/SvPas MGI:3776067
cx19
Nf1tm1Tyj/?
Trp53tm1Tyj/?
MastrC57BL/6J/?
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6J MGI:3587060
cx20
Nf1tm1Tyj/?
Trp53tm1Tyj/?
Mastr129S4/SvJae/?
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6J MGI:3587059
cx21
Cdkn2atm1Rdp/Cdkn2a+
Nf1tm1Tyj/Nf1+
involves: 129S2/SvPas * 129S6/SvEvTac MGI:3776070
cx22
Cdkn2atm1Rdp/Cdkn2atm1Rdp
Nf1tm1Tyj/Nf1+
involves: 129S2/SvPas * 129S6/SvEvTac MGI:3776069
cx23
Cdkn2atm2.1Rdp/Cdkn2atm2.1Rdp
Nf1tm1Tyj/Nf1+
involves: 129S2/SvPas * 129S6/SvEvTac MGI:3776068
cx24
Nf1tm1Tyj/?
Nstr1C57BL/6J/Nstr1C57BL/6J
Trp53tm1Tyj/?
involves: 129S2/SvPas * A/J * C57BL/6J MGI:3663691
cx25
Nf1tm1Tyj/?
Nstr2A/J/?
Trp53tm1Tyj/?
involves: 129S2/SvPas * A/J * C57BL/6J MGI:3663692
cx26
Nf1tm1Tyj/?
Nstr1A/J/?
Trp53tm1Tyj/?
involves: 129S2/SvPas * A/J * C57BL/6J MGI:3663690
cx27
Nf1tm1Tyj/Nf1+
Tg(Th-MYCN)41Waw/0
involves: 129S2/SvPas * BALB/c * C57BL/6J MGI:5009552
cx28
Nf1tm1Tyj/Nf1+
Pak1tm1Cher/Pak1tm1Cher
involves: 129S2/SvPas * C57BL/6 MGI:3834706
cx29
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
involves: 129S2/SvPas * C57BL/6 MGI:5699872
cx30
Grin1tm1Stl/Grin1+
Nf1tm1Tyj/Nf1+
involves: 129S2/SvPas * C57BL/6J MGI:3580057
cx31
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
involves: 129/Sv * C57BL/6 MGI:3580073
cx32
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
(SJL/J x B6.129S2-Trp53tm1Tyj Nf1tm1Tyj/+ +)F1 MGI:5286082


Genotype
MGI:3775926
hm1
Allelic
Composition
Nf1tm1Tyj/Nf1tm1Tyj
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• a higher percentage of cells behave as neural crest stem cells (form multipotent neurospheres) in cultures made from the sympathetic chain, dorsal root ganglia, and sciatic nerve, but not the gut, of E13 homozygous embryos compared to littermate controls
• neurospheres are larger, proliferation is increased, and the capacity for self-renewal is increased in cultured neural crest stem cells from the sympathetic chain, dorsal root ganglia, and sciatic nerve of E13 homozygous embryos compared to littermate controls
• when stimulated to differentiate these neural crest stem cells produce more glia without any decrease in any of the other cell types (neurons, myofibroblasts) produced
• survival of these neural crest stem cells is improved under adverse culture conditions compared to cells from littermate controls

embryo
• a higher percentage of cells behave as neural crest stem cells (form multipotent neurospheres) in cultures made from the sympathetic chain, dorsal root ganglia, and sciatic nerve, but not the gut, of E13 homozygous embryos compared to littermate controls
• neurospheres are larger, proliferation is increased, and the capacity for self-renewal is increased in cultured neural crest stem cells from the sympathetic chain, dorsal root ganglia, and sciatic nerve of E13 homozygous embryos compared to littermate controls
• when stimulated to differentiate these neural crest stem cells produce more glia without any decrease in any of the other cell types (neurons, myofibroblasts) produced
• survival of these neural crest stem cells is improved under adverse culture conditions compared to cells from littermate controls




Genotype
MGI:2175143
hm2
Allelic
Composition
Nf1tm1Tyj/Nf1tm1Tyj
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• myocardium, particularly of the ventricles, was lacy in appearance and thinner than normal

homeostasis/metabolism
• begin to exhibit edema at E12.5

integument




Genotype
MGI:3834705
ht3
Allelic
Composition
Nf1tm1Tyj/Nf1+
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• bone marrow derived mast cells have about a 25% faster proliferation rate than controls when cultured for three days with SCF
• these mast cells also have a two-thirds higher migration rate towards SCF in transwell assays than controls
• a similar higher migration rate to the skin is observed in vivo when SCF is administered
• the percent of degranulating mast cells in SCF-treated skin is almost 4 times that of controls

hematopoietic system
• bone marrow derived mast cells have about a 25% faster proliferation rate than controls when cultured for three days with SCF
• these mast cells also have a two-thirds higher migration rate towards SCF in transwell assays than controls
• a similar higher migration rate to the skin is observed in vivo when SCF is administered
• the percent of degranulating mast cells in SCF-treated skin is almost 4 times that of controls




Genotype
MGI:2175144
ht4
Allelic
Composition
Nf1tm1Tyj/Nf1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system

nervous system

liver/biliary system

endocrine/exocrine glands

neoplasm
• 75% of mice develop tumors over 27 months, including lymphomas, leukemias, lung adenocarcinomas, hepatomas, fibrosarcomas, neurofibrosarcoma, and adrenal tumors
• mice develop similar types of tumors seen in patients with neurofibromatosis, but do not present any other classical features of the disease
• some heterozygotes developed lymphoid leukemia and myeloid leukemia

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Neurofibromatosis, Type I; NF1 162200 J:18542




Genotype
MGI:3580056
ht5
Allelic
Composition
Nf1tm1Tyj/Nf1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• impairment in Morris Water Maze that was overcome with extensive training, however normal long term memory in cued fear conditioning test and normal nociception

Mouse Models of Human Disease
OMIM ID Ref(s)
Neurofibromatosis, Type I; NF1 162200 J:38703




Genotype
MGI:5313434
ht6
Allelic
Composition
Nf1tm1Tyj/Nf1tm2Tyj
Genetic
Background
chimera involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Nf1tm2Tyj mutation (0 available); any Nf1 mutation (85 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice exhibiting a moderate degree of chimerism exhibit an increased incidence of neurofibromas; plexiform neurofibromas only, no dermal neurofibromas

mortality/aging
• mice exhibiting a high degree of chimerism are all dead by one month of age

muscle
• mice exhibiting a moderate degree of chimerism exhibit muscle dysplasia

normal phenotype
• mice exhibiting a low degree of chimerism exhibit normal pathology

neoplasm
• mice exhibiting a moderate degree of chimerism exhibit an increased incidence of neurofibromas; plexiform neurofibromas only, no dermal neurofibromas




Genotype
MGI:3776057
cn7
Allelic
Composition
Nf1tm1Par/Nf1tm1Tyj
Tg(Postn-cre)1Sjc/0
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (85 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Tg(Postn-cre)1Sjc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 6 of 32 mice survived beyond 4 weeks of age

neoplasm
N
• unlike mice crossed to Tg(P0-Cre)1Gth tumors are not seen in surviving adults

embryo
• increase in the frequency of neural crest stem cells in the sympathetic chain and sciatic nerve, but not the gut, at E15 but not in surviving adults

nervous system
• increase in the frequency of neural crest stem cells in the sympathetic chain and sciatic nerve, but not the gut, at E15 but not in surviving adults




Genotype
MGI:3776056
cn8
Allelic
Composition
Nf1tm1Par/Nf1tm1Tyj
Tg(Wnt1-cre)11Rth/0
Genetic
Background
involves: 129/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (85 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Tg(Wnt1-cre)11Rth mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• increase in the frequency of neural crest stem cells in the sympathetic chain, dorsal root ganglia, and sciatic nerve at E13 but not at E17 to E19

nervous system
• increase in the frequency of neural crest stem cells in the sympathetic chain, dorsal root ganglia, and sciatic nerve at E13 but not at E17 to E19




Genotype
MGI:3776064
cn9
Allelic
Composition
Nf1tm1Par/Nf1tm1Tyj
Tg(P0-Cre)1Gth/0
Genetic
Background
involves: 129/Sv * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (85 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Tg(P0-Cre)1Gth mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• neural crest stem cells do not abnormally persist in the peripheral nervous system in adult mice
• at 15 - 20 months of age, all 6 mice examined had plexiform neurofibromas compared to 0 fibromas in control littermates

neoplasm
• at 15 - 20 months of age, all 6 mice examined had plexiform neurofibromas compared to 0 fibromas in control littermates




Genotype
MGI:5286078
cx10
Allelic
Composition
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
Genetic
Background
B6.129S2-Trp53tm1Tyj Nf1tm1Tyj/+ +
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background

mortality/aging
• in mice with advanced tumors

neoplasm
• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background

behavior/neurological
• in mice with advanced tumors
• in mice with advanced tumors




Genotype
MGI:5286079
cx11
Allelic
Composition
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
Genetic
Background
(C3H/HeJ x B6.129S2-Trp53tm1Tyj Nf1tm1Tyj/+ +)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background
• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme

mortality/aging
• in mice with advanced tumors

neoplasm
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background
• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme

behavior/neurological
• in mice with advanced tumors
• in mice with advanced tumors




Genotype
MGI:5286080
cx12
Allelic
Composition
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
Genetic
Background
(CAST/EiJ x B6.129S2-Trp53tm1Tyj Nf1tm1Tyj/+ +)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background

mortality/aging
• in mice with advanced tumors

neoplasm
• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background

behavior/neurological
• in mice with advanced tumors
• in mice with advanced tumors




Genotype
MGI:5286081
cx13
Allelic
Composition
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
Genetic
Background
(CBA/J x B6.129S2-Trp53tm1Tyj Nf1tm1Tyj/+ +)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system

neoplasm




Genotype
MGI:3040176
cx14
Allelic
Composition
Nf1tm1Tyj/Nf1tm1Tyj
Rasa1tm1Paw/Rasa1tm1Paw
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Rasa1tm1Paw mutation (1 available); any Rasa1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• the heart and surrounding trunk are abnormal

embryo
• cell death is widespread in migrating cranial neural crest
• embryo turning usually failed
• arrested development around E8.5
• lacking or abnormal
• localized regions of cell proliferation and outgrowth in the neural tube
• fewer than 8 disorganized somites

hearing/vestibular/ear
• otic placodes develop but do not develop into vesicles

nervous system
• cell death was widespread in the hindbrain
• localized regions of cell proliferation and outgrowth in the neural tube
• midbrain fails to develop
• failure of forebrain structures to develop
• dorsal surface of the hindbrain failed to close

craniofacial
• lacking or abnormal

limbs/digits/tail

cellular
• cell death is widespread in migrating cranial neural crest
• cell death was widespread in the hindbrain




Genotype
MGI:5790202
cx15
Allelic
Composition
Cpt1cGt(XL823)Byg/Cpt1c+
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cpt1cGt(XL823)Byg mutation (1 available); any Cpt1c mutation (25 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• mice show a decrease in incidence of metastases compared to double Trp53 and Nf1 heterozygotes, with 19.44% of mice with sarcomas showing metastases compared to 29.4% of double mutants
• mice show a decrease in incidence of sarcomas compared to double Trp53 and Nf1 heterozygotes, with 13.89% of mice developing soft tissue sarcomas compared to 59.5% of double mutants
• less proliferation is seen in tumors

immune system
• 25% of mice exhibit splenic hyperplasia

hematopoietic system
• 25% of mice exhibit splenic hyperplasia




Genotype
MGI:5699874
cx16
Allelic
Composition
Nf1tm1Tyj/Nf1+
Suz12Gt(Betageo)1Khe/Suz12+
Trp53tm1Tyj/Trp53+
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Suz12Gt(Betageo)1Khe mutation (1 available); any Suz12 mutation (41 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 38% of mice develop malignant peripheral nerve sheath tumors
• tumors develop on average at 2.3 months of age
• 54% of mice develop high-grade gliomas
• gliomas develop on average at 3 months of age

mortality/aging
• mice die by 150 days

neoplasm
• 12% of mice develop lymphomas
• 62% of mice develop histiocytic sarcomas
• 38% of mice develop malignant peripheral nerve sheath tumors
• tumors develop on average at 2.3 months of age
• 4% of develop angiosarcomas
• 54% of mice develop high-grade gliomas
• gliomas develop on average at 3 months of age




Genotype
MGI:5699877
cx17
Allelic
Composition
Nf1tm1Tyj/Nf1+
Suz12Gt(Betageo)1Khe/Suz12+
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Suz12Gt(Betageo)1Khe mutation (1 available); any Suz12 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 3% of mice develop neurofibromas
• 3% of mice develop schwannomas

digestive/alimentary system
• 10% of mice develop intestinal adenomas

liver/biliary system
• 3% of mice develop hepatocellular carcinoma

pigmentation
• 9% of mice develop melanocytic nevi

mortality/aging
• 80% of mice die by 400 days

neoplasm
• 9% of mice develop melanocytic nevi
• 10% of mice develop intestinal adenomas
• 3% of mice develop hepatocellular carcinoma
• 3% of mice develop neurofibromas
• 23% of mice develop lymphoma
• 32% of mice develop histiocytic sarcoma
• 3% of mice develop schwannomas




Genotype
MGI:3776067
cx18
Allelic
Composition
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• neural crest stem cells do not abnormally persist in the peripheral nervous system in adult mice
• form by 6 months of age

neoplasm
• form by 6 months of age




Genotype
MGI:3587060
cx19
Allelic
Composition
Nf1tm1Tyj/?
Trp53tm1Tyj/?
MastrC57BL/6J/?
Genetic
Background
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MastrC57BL/6J mutation (0 available); any Mastr mutation (0 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• astrocytoma susceptibility

neoplasm
• astrocytoma susceptibility




Genotype
MGI:3587059
cx20
Allelic
Composition
Nf1tm1Tyj/?
Trp53tm1Tyj/?
Mastr129S4/SvJae/?
Genetic
Background
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mastr129S4/SvJae mutation (0 available); any Mastr mutation (0 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• astrocytoma resistance




Genotype
MGI:3776070
cx21
Allelic
Composition
Cdkn2atm1Rdp/Cdkn2a+
Nf1tm1Tyj/Nf1+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2atm1Rdp mutation (5 available); any Cdkn2a mutation (30 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• seen at lower frequencies and greater age (over 1 year) compared to mice heterozygous for Nf1 and homozygous for Cdkn2a

neoplasm
• seen at lower frequencies and greater age (over 1 year) compared to mice heterozygous for Nf1 and homozygous for Cdkn2a




Genotype
MGI:3776069
cx22
Allelic
Composition
Cdkn2atm1Rdp/Cdkn2atm1Rdp
Nf1tm1Tyj/Nf1+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2atm1Rdp mutation (5 available); any Cdkn2a mutation (30 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• virtually all mice die by 10 months of age

neoplasm
• seen in some mice
• significant frequency of hematopoietic neoplasms consisting mainly of lymphomas and histiocytic neoplasms with lower incidences of acute myeloid leukemias and myeloproliferative disease
• developed in 26% of mice
• in most cases these tumors are grossly evident by 4 to 6 months of age

nervous system
N
• neural crest stem cells do not abnormally persist in the peripheral nervous system in adult mice
• developed in 26% of mice
• in most cases these tumors are grossly evident by 4 to 6 months of age




Genotype
MGI:3776068
cx23
Allelic
Composition
Cdkn2atm2.1Rdp/Cdkn2atm2.1Rdp
Nf1tm1Tyj/Nf1+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2atm2.1Rdp mutation (2 available); any Cdkn2a mutation (30 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
N
• unlike other mice with at least one Nf1 allele, mice do not display malignant peripheral nerve sheath tumors or neurofibromas
• hematopoietic neoplasms, especially lymphoma, are seen in some mice




Genotype
MGI:3663691
cx24
Allelic
Composition
Nf1tm1Tyj/?
Nstr1C57BL/6J/Nstr1C57BL/6J
Trp53tm1Tyj/?
Genetic
Background
involves: 129S2/SvPas * A/J * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Nstr1C57BL/6J mutation (0 available); any Nstr1 mutation (0 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• susceptibility to developing peripheral nerve sheath tumors

neoplasm
• susceptibility to developing peripheral nerve sheath tumors




Genotype
MGI:3663692
cx25
Allelic
Composition
Nf1tm1Tyj/?
Nstr2A/J/?
Trp53tm1Tyj/?
Genetic
Background
involves: 129S2/SvPas * A/J * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Nstr2A/J mutation (0 available); any Nstr2 mutation (0 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• resistance to peripheral nerve sheath tumors




Genotype
MGI:3663690
cx26
Allelic
Composition
Nf1tm1Tyj/?
Nstr1A/J/?
Trp53tm1Tyj/?
Genetic
Background
involves: 129S2/SvPas * A/J * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Nstr1A/J mutation (0 available); any Nstr1 mutation (0 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• resistance to peripheral nerve sheath tumors




Genotype
MGI:5009552
cx27
Allelic
Composition
Nf1tm1Tyj/Nf1+
Tg(Th-MYCN)41Waw/0
Genetic
Background
involves: 129S2/SvPas * BALB/c * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Tg(Th-MYCN)41Waw mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mutants exhibit a decreased latency and an increased incidence of tumors compared to single hemizygous Tg(Th-MYCN)41Waw mice, such that about 75% of mutants develop neuroblastomas by 10 months of age compared to 40% of single hemizygous Tg(Th-MYCN)41Waw mice

neoplasm
• mutants exhibit a decreased latency and an increased incidence of tumors compared to single hemizygous Tg(Th-MYCN)41Waw mice, such that about 75% of mutants develop neuroblastomas by 10 months of age compared to 40% of single hemizygous Tg(Th-MYCN)41Waw mice

Mouse Models of Human Disease
OMIM ID Ref(s)
Neuroblastoma, Susceptibility to 256700 J:41126




Genotype
MGI:3834706
cx28
Allelic
Composition
Nf1tm1Tyj/Nf1+
Pak1tm1Cher/Pak1tm1Cher
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Pak1tm1Cher mutation (1 available); any Pak1 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• bone marrow derived mast cells proliferate at 60% the rate as controls when cultured for three days with SCF
• migration rates and degranulation of mast cells in response to SCF-treatment is similar to wild-type controls

hematopoietic system
• bone marrow derived mast cells proliferate at 60% the rate as controls when cultured for three days with SCF
• migration rates and degranulation of mast cells in response to SCF-treatment is similar to wild-type controls




Genotype
MGI:5699872
cx29
Allelic
Composition
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die by 250 days (J:217077)
• median survival time is 5-15 months (J:228258)

immune system
• 41.2% of mice exhibit splenic hyperplasia

neoplasm
• metastases are seen in 29.4% of mice with sarcomas
• 3% of mice develop lymphomas (J:217077)
• mice develop lymphomas around 3-6 months of age (J:228258)
• 10% of mice develop histiocytic sarcomas
• 8% of mice develop neuroblastoma
• 59.5% of mice develop soft tissue sarcomas of the limbs and abdomen around 3-6 months of age
• 67% of mice develop malignant peripheral nerve sheath tumors
• tumors develop on average at 150 days of age
• 15% of mice develop high-grade glioma
• gliomas develop at approximately 200 days of age

nervous system
• 8% of mice develop neuroblastoma
• 67% of mice develop malignant peripheral nerve sheath tumors
• tumors develop on average at 150 days of age
• 15% of mice develop high-grade glioma
• gliomas develop at approximately 200 days of age

hematopoietic system
• 41.2% of mice exhibit splenic hyperplasia




Genotype
MGI:3580057
cx30
Allelic
Composition
Grin1tm1Stl/Grin1+
Nf1tm1Tyj/Nf1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grin1tm1Stl mutation (0 available); any Grin1 mutation (29 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• spatial learning impairment in Morris Water Maze Test, however normal long term memory in cued fear conditioning test and normal nociception

Mouse Models of Human Disease
OMIM ID Ref(s)
Neurofibromatosis, Type I; NF1 162200 J:38703




Genotype
MGI:3580073
cx31
Allelic
Composition
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• develop in cis-double heterozygotes, usually correlated with loss of one chromosome

mortality/aging
• cis-double heterozygotes die by 5 months of age and trans-double heterozygotes survive to the average age of 10 months

neoplasm
• cis-double heterozygotes exhibit greater incidence of tumors than trans-double heterozygotes
• developed in both cis- and trans-double heterozygotes
• sarcomas in trans-double heterozygotes were similar to those found in mice with either single mutation and were usually correlated with loss of one chromosome
• develop in cis-double heterozygotes, usually correlated with loss of one chromosome

Mouse Models of Human Disease
OMIM ID Ref(s)
Neurofibromatosis, Type I; NF1 162200 J:58876




Genotype
MGI:5286082
cx32
Allelic
Composition
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
Genetic
Background
(SJL/J x B6.129S2-Trp53tm1Tyj Nf1tm1Tyj/+ +)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (85 available)
Trp53tm1Tyj mutation (9 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background

mortality/aging
• in mice with advanced tumors

neoplasm
• brain tumors range from diffuse cells with nuclear atypia to glioblastoma multiforme
• Background Sensitivity: mice on a congenic C57BL/6 or C3H/HeJ F1 background develop more brain tumors compared with mice on a CAST/EiJ or SJL/J F1 background

behavior/neurological
• in mice with advanced tumors
• in mice with advanced tumors





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory