All Phenotypes Nf1<tm1Tyj> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Nf1^tm1Tyj
targeted mutation 1, Tyler Jacks
MGI:1857478

Summary

32 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nf1^tm1Tyj/Nf1^tm1Tyj	involves: 129S2/SvPas	MGI:3775926
hm2	Nf1^tm1Tyj/Nf1^tm1Tyj	involves: 129S2/SvPas * C57BL/6	MGI:2175143
ht3	Nf1^tm1Tyj/Nf1⁺	involves: 129S2/SvPas	MGI:3834705
ht4	Nf1^tm1Tyj/Nf1⁺	involves: 129S2/SvPas * C57BL/6	MGI:2175144
ht5	Nf1^tm1Tyj/Nf1⁺	involves: 129S2/SvPas * C57BL/6J	MGI:3580056
ht6	Nf1^tm1Tyj/Nf1^tm2Tyj	chimera involves: 129S2/SvPas	MGI:5313434
cn7	Nf1^tm1Par/Nf1^tm1Tyj Tg(Postn-cre)1Sjc/0	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ	MGI:3776057
cn8	Nf1^tm1Par/Nf1^tm1Tyj H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129/Sv * C57BL/6 * CBA	MGI:3776056
cn9	Nf1^tm1Par/Nf1^tm1Tyj Tg(Mpz-cre)1Brn/0	involves: 129/Sv * FVB/N	MGI:3776064
cx10	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺	B6.129S2-Trp53^tm1Tyj Nf1^tm1Tyj/+ +	MGI:5286078
cx11	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺	(C3H/HeJ x B6.129S2-Trp53^tm1Tyj Nf1^tm1Tyj/+ +)F1	MGI:5286079
cx12	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺	(CAST/EiJ x B6.129S2-Trp53^tm1Tyj Nf1^tm1Tyj/+ +)F1	MGI:5286080
cx13	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺	(CBA/J x B6.129S2-Trp53^tm1Tyj Nf1^tm1Tyj/+ +)F1	MGI:5286081
cx14	Nf1^tm1Tyj/Nf1^tm1Tyj Rasa1^tm1Paw/Rasa1^tm1Paw	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	Cpt1c^Gt(XL823)Byg/Cpt1c⁺ Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:5790202
cx16	Nf1^tm1Tyj/Nf1⁺ Suz12^{Gt(Betageo)1Khe}/Suz12⁺ Trp53^tm1Tyj/Trp53⁺	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:5699874
cx17	Nf1^tm1Tyj/Nf1⁺ Suz12^{Gt(Betageo)1Khe}/Suz12⁺	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:5699877
cx18	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺	involves: 129S2/SvPas	MGI:3776067
cx19	Nf1^tm1Tyj/? Trp53^tm1Tyj/? Mastr^C57BL/6J/?	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6J	MGI:3587060
cx20	Nf1^tm1Tyj/? Trp53^tm1Tyj/? Mastr^129S4/SvJae/?	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6J	MGI:3587059
cx21	Cdkn2a^tm1Rdp/Cdkn2a^tm1Rdp Nf1^tm1Tyj/Nf1⁺	involves: 129S2/SvPas * 129S6/SvEvTac	MGI:3776069
cx22	Cdkn2a^tm2.1Rdp/Cdkn2a^tm2.1Rdp Nf1^tm1Tyj/Nf1⁺	involves: 129S2/SvPas * 129S6/SvEvTac	MGI:3776068
cx23	Cdkn2a^tm1Rdp/Cdkn2a⁺ Nf1^tm1Tyj/Nf1⁺	involves: 129S2/SvPas * 129S6/SvEvTac	MGI:3776070
cx24	Nf1^tm1Tyj/? Nstr1^A/J/? Trp53^tm1Tyj/?	involves: 129S2/SvPas * A/J * C57BL/6J	MGI:3663690
cx25	Nf1^tm1Tyj/? Nstr2^A/J/? Trp53^tm1Tyj/?	involves: 129S2/SvPas * A/J * C57BL/6J	MGI:3663692
cx26	Nf1^tm1Tyj/? Nstr1^C57BL/6J/Nstr1^C57BL/6J Trp53^tm1Tyj/?	involves: 129S2/SvPas * A/J * C57BL/6J	MGI:3663691
cx27	Nf1^tm1Tyj/Nf1⁺ Tg(Th-MYCN)41Waw/0	involves: 129S2/SvPas * BALB/c * C57BL/6J	MGI:5009552
cx28	Nf1^tm1Tyj/Nf1⁺ Pak1^tm1Cher/Pak1^tm1Cher	involves: 129S2/SvPas * C57BL/6	MGI:3834706
cx29	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺	involves: 129S2/SvPas * C57BL/6	MGI:5699872
cx30	Grin1^tm1Stl/Grin1⁺ Nf1^tm1Tyj/Nf1⁺	involves: 129S2/SvPas * C57BL/6J	MGI:3580057
cx31	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺	involves: 129/Sv * C57BL/6	MGI:3580073
cx32	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺	(SJL/J x B6.129S2-Trp53^tm1Tyj Nf1^tm1Tyj/+ +)F1	MGI:5286082

Allelic Composition	Nf1^tm1Tyj/Nf1^tm1Tyj
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)

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

nervous system

abnormal neural crest cell morphology ( J:131914 )

• 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

abnormal neural crest cell morphology ( J:131914 )

• 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

Allelic Composition	Nf1^tm1Tyj/Nf1^tm1Tyj
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:18542 )

• between E12.5 and E14

cardiovascular system

abnormal myocardium layer morphology ( J:18542 )

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

double outlet right ventricle ( J:18542 )

distended pericardium ( J:18542 )

homeostasis/metabolism

hydrops fetalis ( J:18542 )

• begin to exhibit edema at E12.5

integument

pallor ( J:18542 )

muscle

abnormal myocardium layer morphology ( J:18542 )

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

Allelic Composition	Nf1^tm1Tyj/Nf1⁺
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)

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

immune system

abnormal mast cell physiology ( J:142439 )

• 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

increased mast cell degranulation ( J:142439 )

• the percent of degranulating mast cells in SCF-treated skin is almost 4 times that of controls

hematopoietic system

abnormal mast cell physiology ( J:142439 )

• 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

increased mast cell degranulation ( J:142439 )

• the percent of degranulating mast cells in SCF-treated skin is almost 4 times that of controls

cellular

increased mast cell degranulation ( J:142439 )

• the percent of degranulating mast cells in SCF-treated skin is almost 4 times that of controls

Allelic Composition	Nf1^tm1Tyj/Nf1⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)

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

neoplasm

increased tumor incidence ( J:18542 )

• 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

increased adrenal gland tumor incidence ( J:18542 )

increased pheochromocytoma incidence ( J:18542 )

increased hepatoma incidence ( J:18542 )

increased leukemia incidence ( J:18542 )

• some heterozygotes developed lymphoid leukemia and myeloid leukemia

increased lymphoma incidence ( J:18542 )

increased lung adenocarcinoma incidence ( J:18542 )

increased fibrosarcoma incidence ( J:18542 )

increased neurofibrosarcoma incidence ( J:18542 )

liver/biliary system

increased hepatoma incidence ( J:18542 )

respiratory system

increased lung adenocarcinoma incidence ( J:18542 )

endocrine/exocrine glands

increased adrenal gland tumor incidence ( J:18542 )

increased pheochromocytoma incidence ( J:18542 )

nervous system

increased neurofibrosarcoma incidence ( J:18542 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	neurofibromatosis 1	DOID:0111253	OMIM:162200	J:18542

Allelic Composition	Nf1^tm1Tyj/Nf1⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)

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

behavior/neurological

abnormal spatial learning ( J:38703 )

• 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		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:38703

Allelic Composition	Nf1^tm1Tyj/Nf1^tm2Tyj
Genetic Background	chimera involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Nf1^tm2Tyj mutation (0 available); any Nf1 mutation (157 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:58876 )

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

muscle

abnormal muscle morphology ( J:58876 )

• mice exhibiting a moderate degree of chimerism exhibit muscle dysplasia

normal phenotype

no abnormal phenotype detected ( J:58876 )

• mice exhibiting a low degree of chimerism exhibit normal pathology

neoplasm

increased neurofibroma incidence ( J:58876 )

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

nervous system

increased neurofibroma incidence ( J:58876 )

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

Allelic Composition	Nf1^tm1Par/Nf1^tm1Tyj 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:
Nf1^tm1Par mutation (4 available); any Nf1 mutation (157 available)
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Tg(Postn-cre)1Sjc mutation (0 available)

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

mortality/aging

premature death ( J:131914 )

• only 6 of 32 mice survived beyond 4 weeks of age

neoplasm

neoplasm ( J:131914 )

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

embryo

abnormal neural crest cell morphology ( J:131914 )

• 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

abnormal neural crest cell morphology ( J:131914 )

• 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

Allelic Composition	Nf1^tm1Par/Nf1^tm1Tyj H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Genetic Background	involves: 129/Sv * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)
Nf1^tm1Par mutation (4 available); any Nf1 mutation (157 available)
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)

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

embryo

abnormal neural crest cell morphology ( J:131914 )

• 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

abnormal neural crest cell morphology ( J:131914 )

• 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

Allelic Composition	Nf1^tm1Par/Nf1^tm1Tyj Tg(Mpz-cre)1Brn/0
Genetic Background	involves: 129/Sv * FVB/N

Find Mice

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

nervous system

nervous system phenotype ( J:131914 )

N	• neural crest stem cells do not abnormally persist in the peripheral nervous system in adult mice

increased neurofibroma incidence ( J:131914 )

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

neoplasm

increased neurofibroma incidence ( J:131914 )

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

Allelic Composition	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	B6.129S2-Trp53^tm1Tyj Nf1^tm1Tyj/+ +

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 available)

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

nervous system

increased glioblastoma incidence ( J:64364 )

increased brain tumor incidence ( J:64364 )

• 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

increased astrocytoma incidence ( J:64364 )

mortality/aging

decreased tumor-free survival time ( J:64364 )

• in mice with advanced tumors

neoplasm

increased glioblastoma incidence ( J:64364 )

increased brain tumor incidence ( J:64364 )

• 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

increased astrocytoma incidence ( J:64364 )

behavior/neurological

ataxia ( J:64364 )

• in mice with advanced tumors

paralysis ( J:64364 )

• in mice with advanced tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant astrocytoma		DOID:3069		J:64364

Allelic Composition	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	(C3H/HeJ x B6.129S2-Trp53^tm1Tyj Nf1^tm1Tyj/+ +)F1

Find Mice

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

nervous system

increased glioblastoma incidence ( J:64364 )

increased brain tumor incidence ( J:64364 )

• 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

increased astrocytoma incidence ( J:64364 )

mortality/aging

decreased tumor-free survival time ( J:64364 )

• in mice with advanced tumors

neoplasm

increased glioblastoma incidence ( J:64364 )

increased brain tumor incidence ( J:64364 )

• 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

increased astrocytoma incidence ( J:64364 )

behavior/neurological

ataxia ( J:64364 )

• in mice with advanced tumors

paralysis ( J:64364 )

• in mice with advanced tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant astrocytoma		DOID:3069		J:64364

Allelic Composition	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	(CAST/EiJ x B6.129S2-Trp53^tm1Tyj Nf1^tm1Tyj/+ +)F1

Find Mice

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

nervous system

increased glioblastoma incidence ( J:64364 )

increased brain tumor incidence ( J:64364 )

• 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

increased astrocytoma incidence ( J:64364 )

mortality/aging

decreased tumor-free survival time ( J:64364 )

• in mice with advanced tumors

neoplasm

increased glioblastoma incidence ( J:64364 )

increased brain tumor incidence ( J:64364 )

• 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

increased astrocytoma incidence ( J:64364 )

behavior/neurological

ataxia ( J:64364 )

• in mice with advanced tumors

paralysis ( J:64364 )

• in mice with advanced tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant astrocytoma		DOID:3069		J:64364

Allelic Composition	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	(CBA/J x B6.129S2-Trp53^tm1Tyj Nf1^tm1Tyj/+ +)F1

Find Mice

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

neoplasm

increased brain tumor incidence ( J:64364 )

nervous system

increased brain tumor incidence ( J:64364 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant astrocytoma		DOID:3069		J:64364

Allelic Composition	Nf1^tm1Tyj/Nf1^tm1Tyj Rasa1^tm1Paw/Rasa1^tm1Paw
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:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Rasa1^tm1Paw mutation (0 available); any Rasa1 mutation (34 available)

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

cardiovascular system

abnormal heart morphology ( J:29825 )

• the heart and surrounding trunk are abnormal

embryo

increased cranial neural crest cell apoptosis ( J:29825 )

• cell death is widespread in migrating cranial neural crest

abnormal embryo turning ( J:29825 )

• embryo turning usually failed

embryonic growth arrest ( J:29825 )

• arrested development around E8.5

abnormal embryonic tissue morphology ( J:29825 )

abnormal pharyngeal arch morphology ( J:29825 )

• lacking or abnormal

absent limb buds ( J:29825 )

abnormal neural tube morphology ( J:29825 )

• localized regions of cell proliferation and outgrowth in the neural tube

failure of somite differentiation ( J:29825 )

• fewer than 8 disorganized somites

abnormal extraembryonic tissue morphology ( J:29825 )

enlarged allantois ( J:29825 )

excessive folding of visceral yolk sac ( J:29825 )

• ruffled yolk sac

hearing/vestibular/ear

absent otic vesicle ( J:29825 )

• otic placodes develop but do not develop into vesicles

nervous system

increased hindbrain apoptosis ( J:29825 )

• cell death was widespread in the hindbrain

abnormal neural tube morphology ( J:29825 )

• localized regions of cell proliferation and outgrowth in the neural tube

abnormal brain morphology ( J:29825 )

absent midbrain ( J:29825 )

• midbrain fails to develop

absent forebrain ( J:29825 )

• failure of forebrain structures to develop

abnormal hindbrain morphology ( J:29825 )

• dorsal surface of the hindbrain failed to close

craniofacial

abnormal pharyngeal arch morphology ( J:29825 )

• lacking or abnormal

limbs/digits/tail

absent limb buds ( J:29825 )

cellular

increased cranial neural crest cell apoptosis ( J:29825 )

• cell death is widespread in migrating cranial neural crest

increased hindbrain apoptosis ( J:29825 )

• cell death was widespread in the hindbrain

Allelic Composition	Cpt1c^Gt(XL823)Byg/Cpt1c⁺ Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cpt1c^Gt(XL823)Byg mutation (2 available); any Cpt1c mutation (42 available)
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 available)

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

neoplasm

decreased metastatic potential ( J:228258 )

• 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

decreased sarcoma incidence ( J:228258 )

• 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

spleen hyperplasia ( J:228258 )

• 25% of mice exhibit splenic hyperplasia

hematopoietic system

spleen hyperplasia ( J:228258 )

• 25% of mice exhibit splenic hyperplasia

growth/size/body

spleen hyperplasia ( J:228258 )

• 25% of mice exhibit splenic hyperplasia

Allelic Composition	Nf1^tm1Tyj/Nf1⁺ Suz12^{Gt(Betageo)1Khe}/Suz12⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Suz12^{Gt(Betageo)1Khe} mutation (1 available); any Suz12 mutation (60 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 available)

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

mortality/aging

premature death ( J:217077 )

• mice die by 150 days

neoplasm

increased tumor incidence ( J:217077 )

increased lymphoma incidence ( J:217077 )

• 12% of mice develop lymphomas

increased histiocytic sarcoma incidence ( J:217077 )

• 62% of mice develop histiocytic sarcomas

increased neurofibrosarcoma incidence ( J:217077 )

• 38% of mice develop malignant peripheral nerve sheath tumors

• tumors develop on average at 2.3 months of age

increased hemangiosarcoma incidence ( J:217077 )

• 4% of develop angiosarcomas

increased glioma incidence ( J:217077 )

• 54% of mice develop high-grade gliomas

• gliomas develop on average at 3 months of age

nervous system

increased neurofibrosarcoma incidence ( J:217077 )

• 38% of mice develop malignant peripheral nerve sheath tumors

• tumors develop on average at 2.3 months of age

increased glioma incidence ( J:217077 )

• 54% of mice develop high-grade gliomas

• gliomas develop on average at 3 months of age

Allelic Composition	Nf1^tm1Tyj/Nf1⁺ Suz12^{Gt(Betageo)1Khe}/Suz12⁺
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Find Mice

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

pigmentation

abnormal melanocyte morphology ( J:217077 )

• 9% of mice develop melanocytic nevi

mortality/aging

premature death ( J:217077 )

• 80% of mice die by 400 days

neoplasm

increased tumor incidence ( J:217077 )

• 9% of mice develop melanocytic nevi

increased intestinal adenoma incidence ( J:217077 )

• 10% of mice develop intestinal adenomas

increased hepatocellular carcinoma incidence ( J:217077 )

• 3% of mice develop hepatocellular carcinoma

increased neurofibroma incidence ( J:217077 )

• 3% of mice develop neurofibromas

increased lymphoma incidence ( J:217077 )

• 23% of mice develop lymphoma

increased histiocytic sarcoma incidence ( J:217077 )

• 32% of mice develop histiocytic sarcoma

increased neurofibrosarcoma incidence ( J:217077 )

increased Schwannoma incidence ( J:217077 )

• 3% of mice develop schwannomas

nervous system

increased neurofibroma incidence ( J:217077 )

• 3% of mice develop neurofibromas

increased neurofibrosarcoma incidence ( J:217077 )

increased Schwannoma incidence ( J:217077 )

• 3% of mice develop schwannomas

digestive/alimentary system

increased intestinal adenoma incidence ( J:217077 )

• 10% of mice develop intestinal adenomas

liver/biliary system

increased hepatocellular carcinoma incidence ( J:217077 )

• 3% of mice develop hepatocellular carcinoma

Allelic Composition	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	involves: 129S2/SvPas

Find Mice

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

nervous system

nervous system phenotype ( J:131914 )

N	• neural crest stem cells do not abnormally persist in the peripheral nervous system in adult mice

increased neurofibrosarcoma incidence ( J:131914 )

• form by 6 months of age

neoplasm

increased neurofibrosarcoma incidence ( J:131914 )

• form by 6 months of age

Allelic Composition	Nf1^tm1Tyj/? Trp53^tm1Tyj/? Mastr^C57BL/6J/?
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mastr^C57BL/6J mutation (0 available); any Mastr mutation (0 available)
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 available)

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

neoplasm

increased astrocytoma incidence ( J:92444 )

• astrocytoma susceptibility

nervous system

increased astrocytoma incidence ( J:92444 )

• astrocytoma susceptibility

Allelic Composition	Nf1^tm1Tyj/? Trp53^tm1Tyj/? Mastr^129S4/SvJae/?
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mastr^129S4/SvJae mutation (0 available); any Mastr mutation (0 available)
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 available)

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

neoplasm

decreased tumor incidence ( J:92444 )

• astrocytoma resistance

Allelic Composition	Cdkn2a^tm1Rdp/Cdkn2a^tm1Rdp Nf1^tm1Tyj/Nf1⁺
Genetic Background	involves: 129S2/SvPas * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2a^tm1Rdp mutation (6 available); any Cdkn2a mutation (62 available)
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)

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

mortality/aging

premature death ( J:131914 )

• virtually all mice die by 10 months of age

neoplasm

increased leukemia incidence ( J:131914 )

• seen in some mice

increased lymphoma incidence ( J:131914 )

• significant frequency of hematopoietic neoplasms consisting mainly of lymphomas and histiocytic neoplasms with lower incidences of acute myeloid leukemias and myeloproliferative disease

increased neurofibrosarcoma incidence ( J:131914 )

• developed in 26% of mice

• in most cases these tumors are grossly evident by 4 to 6 months of age

nervous system

nervous system phenotype ( J:131914 )

N	• neural crest stem cells do not abnormally persist in the peripheral nervous system in adult mice

increased neurofibrosarcoma incidence ( J:131914 )

• developed in 26% of mice

• in most cases these tumors are grossly evident by 4 to 6 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant peripheral nerve sheath tumor		DOID:5940		J:131914

Allelic Composition	Cdkn2a^tm2.1Rdp/Cdkn2a^tm2.1Rdp Nf1^tm1Tyj/Nf1⁺
Genetic Background	involves: 129S2/SvPas * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2a^tm2.1Rdp mutation (2 available); any Cdkn2a mutation (62 available)
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)

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

neoplasm

neoplasm ( J:131914 )

N	• unlike other mice with at least one Nf1^tm1Tyj allele, mice do not display malignant peripheral nerve sheath tumors or neurofibromas

increased lymphoma incidence ( J:131914 )

• hematopoietic neoplasms, especially lymphoma, are seen in some mice

Allelic Composition	Cdkn2a^tm1Rdp/Cdkn2a⁺ Nf1^tm1Tyj/Nf1⁺
Genetic Background	involves: 129S2/SvPas * 129S6/SvEvTac

Find Mice

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

neoplasm

increased neurofibrosarcoma incidence ( J:131914 )

• seen at lower frequencies and greater age (over 1 year) compared to mice heterozygous for Nf1^tm1Tyj and homozygous for Cdkn2a^tm2Rdp

nervous system

increased neurofibrosarcoma incidence ( J:131914 )

• seen at lower frequencies and greater age (over 1 year) compared to mice heterozygous for Nf1^tm1Tyj and homozygous for Cdkn2a^tm2Rdp

Allelic Composition	Nf1^tm1Tyj/? Nstr1^A/J/? Trp53^tm1Tyj/?
Genetic Background	involves: 129S2/SvPas * A/J * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Nstr1^A/J mutation (0 available); any Nstr1 mutation (0 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 available)

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

neoplasm

decreased tumor incidence ( J:105038 )

• resistance to peripheral nerve sheath tumors

Allelic Composition	Nf1^tm1Tyj/? Nstr2^A/J/? Trp53^tm1Tyj/?
Genetic Background	involves: 129S2/SvPas * A/J * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Nstr2^A/J mutation (0 available); any Nstr2 mutation (0 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 available)

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

neoplasm

decreased tumor incidence ( J:105038 )

• resistance to peripheral nerve sheath tumors

Allelic Composition	Nf1^tm1Tyj/? Nstr1^C57BL/6J/Nstr1^C57BL/6J Trp53^tm1Tyj/?
Genetic Background	involves: 129S2/SvPas * A/J * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Nstr1^C57BL/6J mutation (0 available); any Nstr1 mutation (0 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 available)

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

neoplasm

increased neurofibrosarcoma incidence ( J:105038 )

• susceptibility to developing peripheral nerve sheath tumors

nervous system

increased neurofibrosarcoma incidence ( J:105038 )

• susceptibility to developing peripheral nerve sheath tumors

Allelic Composition	Nf1^tm1Tyj/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:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Tg(Th-MYCN)41Waw mutation (2 available)

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

neoplasm

increased neuroblastoma incidence ( J:41126 )

• 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

nervous system

increased neuroblastoma incidence ( J:41126 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuroblastoma		DOID:769		J:41126

Allelic Composition	Nf1^tm1Tyj/Nf1⁺ Pak1^tm1Cher/Pak1^tm1Cher
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)
Pak1^tm1Cher mutation (1 available); any Pak1 mutation (36 available)

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

immune system

abnormal mast cell physiology ( J:142439 )

• 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

abnormal mast cell physiology ( J:142439 )

• 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

Allelic Composition	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

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

mortality/aging

premature death ( J:217077 , J:228258 )

• most mice die by 250 days (J:217077)

• median survival time is 5-15 months (J:228258)

immune system

spleen hyperplasia ( J:228258 )

• 41.2% of mice exhibit splenic hyperplasia

neoplasm

increased metastatic potential ( J:228258 )

• metastases are seen in 29.4% of mice with sarcomas

increased tumor incidence ( J:217077 )

increased lymphoma incidence ( J:217077 , J:228258 )

• 3% of mice develop lymphomas (J:217077)

• mice develop lymphomas around 3-6 months of age (J:228258)

increased histiocytic sarcoma incidence ( J:217077 )

• 10% of mice develop histiocytic sarcomas

increased neuroblastoma incidence ( J:217077 )

• 8% of mice develop neuroblastoma

increased sarcoma incidence ( J:228258 )

• 59.5% of mice develop soft tissue sarcomas of the limbs and abdomen around 3-6 months of age

increased neurofibrosarcoma incidence ( J:217077 )

• 67% of mice develop malignant peripheral nerve sheath tumors

• tumors develop on average at 150 days of age

increased glioma incidence ( J:217077 )

• 15% of mice develop high-grade glioma

• gliomas develop at approximately 200 days of age

nervous system

increased neuroblastoma incidence ( J:217077 )

• 8% of mice develop neuroblastoma

increased neurofibrosarcoma incidence ( J:217077 )

• 67% of mice develop malignant peripheral nerve sheath tumors

• tumors develop on average at 150 days of age

increased glioma incidence ( J:217077 )

• 15% of mice develop high-grade glioma

• gliomas develop at approximately 200 days of age

hematopoietic system

spleen hyperplasia ( J:228258 )

• 41.2% of mice exhibit splenic hyperplasia

growth/size/body

spleen hyperplasia ( J:228258 )

• 41.2% of mice exhibit splenic hyperplasia

Allelic Composition	Grin1^tm1Stl/Grin1⁺ Nf1^tm1Tyj/Nf1⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grin1^tm1Stl mutation (0 available); any Grin1 mutation (64 available)
Nf1^tm1Tyj mutation (3 available); any Nf1 mutation (157 available)

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

behavior/neurological

abnormal spatial learning ( J:38703 )

• 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		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:38703

Allelic Composition	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

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

mortality/aging

premature death ( J:58876 )

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

neoplasm

increased tumor incidence ( J:58876 )

• cis-double heterozygotes exhibit greater incidence of tumors than trans-double heterozygotes

increased sarcoma incidence ( J:58876 )

• 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

increased neurofibrosarcoma incidence ( J:58876 )

• develop in cis-double heterozygotes, usually correlated with loss of one chromosome

nervous system

increased neurofibrosarcoma incidence ( J:58876 )

• develop in cis-double heterozygotes, usually correlated with loss of one chromosome

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:58876

Allelic Composition	Nf1^tm1Tyj/Nf1⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	(SJL/J x B6.129S2-Trp53^tm1Tyj Nf1^tm1Tyj/+ +)F1

Find Mice

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

nervous system

increased glioblastoma incidence ( J:64364 )

increased brain tumor incidence ( J:64364 )

• 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

increased astrocytoma incidence ( J:64364 )

mortality/aging

decreased tumor-free survival time ( J:64364 )

• in mice with advanced tumors

neoplasm

increased glioblastoma incidence ( J:64364 )

increased brain tumor incidence ( J:64364 )

• 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

increased astrocytoma incidence ( J:64364 )

behavior/neurological

ataxia ( J:64364 )

• in mice with advanced tumors

paralysis ( J:64364 )

• in mice with advanced tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant astrocytoma		DOID:3069		J:64364

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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