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Human Disease and Mouse Model Detail
Human Disease

Term: Neurofibromatosis, Type I; NF1
OMIM ID: 162200

Synonyms Neurofibromatosis, Peripheral Type; Von Recklinghausen Disease
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
Nf1 NF1
  mousehuman...both mouse and human orthologous genes.
     
Grin1 GRIN1
Kras KRAS
Pten PTEN
Trp53 TP53
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Grin1tm1Stl/Grin1+
Nf1tm1Tyj/Nf1+
  involves: 129S2/SvPas * C57BL/6J J:38703
Nf1tm1Cbr/Nf1tm1Cbr   involves: 129S1/Sv * C57BL/6 J:68489
Nf1tm1Fcr/Nf1tm1Fcr   either: (involves: 129S/SvEv) or (involves: 129S/SvEv * C57BL/6J) J:18048
Nf1tm1Par/Nf1tm1Fcr
Tg(GFAP-cre)#Gtm/0
4 involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA J:165209
Nf1tm1Par/Nf1tm1Par
Tg(Pax3-cre)1Joe/0
4 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL J:80323
Nf1tm1Par/Nf1tm1Par
Tg(Wnt1-cre)11Rth/0
4 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA J:80323
Nf1tm1Par/Nf1tm1Par
Tg(Mpz-cre)94Imeg/0
4 involves: 129S1/Sv * 129X1/SvJ J:80323
Nf1tm1Par/Nf1tm1Par
Tg(Syn1-cre)671Jxm/0
4 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA J:68558
Nf1tm1Par/Nf1tm1Par
Tg(Fabp7-cre)2Gtm/0
4 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA J:138868
Nf1tm1Tyj/Nf1+
Trp53tm1Tyj/Trp53+
  involves: 129/Sv * C57BL/6 J:58876
Nf1tm1Tyj/Nf1+
Trp53tm1Brd/Trp53+
  involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6 J:58877
Nf1tm1Tyj/Nf1+   involves: 129S2/SvPas * C57BL/6J J:38703
Models with phenotypic similarity to human disease where etiologies are distinct.2
Krastm4Tyj/Kras+
Ptentm1Hwu/Pten+
Tg(Gfap-cre)77.6Mvs/0
4 involves: 129S4/SvJae * BALB/c * C57BL/6NHsd J:154673
No similarity to the expected human disease phenotype was found.3
NOT Nf1tm1Tyj/Nf1+   involves: 129S2/SvPas * C57BL/6 J:18542

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
3One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.
4Conditionally targeted allele(s)

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
04/03/2013
MGI 5.12
The Jackson Laboratory