Symbol
Name
ID
|
|
|
Synonyms
|
neurofibromin, Nf-1
|
|
Genetic Map
|
|
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Sequence Map
|
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Mammalian
homology
|
|
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Sequences
|
All sequences(29)
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Alleles
and
phenotypes
|
All alleles(23) :
Targeted, knock-out(4)
Targeted, other(3)
Gene trapped(16)
| Homozygous embryos die by day 14.5 with enlarged head and chest, pale liver, microphthalmia, cardiac defects and delayed organ development. Heterozygotes have elevated astrocyte number, predisposition to multiple tumor types and learning/memory deficits. |
Associated Human Diseases (4)
Alleles Annotated to Human Diseases (4)
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Polymorphisms
|
SNPs within 2kb(469 from dbSNP Build 128)
|
Gene Ontology
(GO)
classifications
|
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Expression
|
Literature Summary: (12 records)
Data Summary:
Assays (17)
Results (184)
Tissues (107)
Images (32)
Theiler Stages: 12,14,16,17,18,19,20,21,22,23,24,28
| |
Assay Type |
Assays |
|
Results |
| |
Western blot |
4 |
|
19 |
| |
RT-PCR |
4 |
|
63 |
| |
RNA in situ |
3 |
|
15 |
| |
Immunohistochemistry |
2 |
|
60 |
| |
Northern blot |
4 |
|
27 |
cDNA source data(23)
External Resources:
Allen Brain Atlas
GENSAT
GEO
|
Molecular
reagents
|
All nucleic(51)
Genomic(15)
cDNA(29)
Primer pair(5)
Other(2)
Antibodies(4)
Microarray probesets(3)
|
Other database
links
|
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Protein
domains
|
| InterPro ID |
Description |
| IPR001251 |
Cellular retinaldehyde-binding/triple function, C-terminal |
| IPR001936 |
Ras GTPase-activating protein |
Graphical View
of Protein Domain Structure
|
|
References
|
(Earliest)
J:32338
Julien JP et al.,
"Cloning of a cDNA encoding the smallest neurofilament protein from the rat."
Biochim Biophys Acta 1985 Aug 21;825(4):398-404
(Latest)
J:153839
Cutts BA et al.,
"Nf1 deficiency cooperates with oncogenic K-RAS to induce acute myeloid leukemia in mice."
Blood 2009 Oct 22;114(17):3629-32
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All references(177)
|
Other
accession IDs
|
MGD-MRK-12821, MGD-MRK-12822, MGI:2144546
|
