| ZFIN ID: ZDB-GENE-030131-4907 |
| Gene Name: | neurofibromin 1a | ||||||
|---|---|---|---|---|---|---|---|
| Gene Symbol: | nf1a | ||||||
| Sequence Ontology ID : | SO:0000704 | ||||||
| Previous Names: | nf1 (2), fe06d03, hm:zehn0874 (1), wu:fe06d03, zehn0874 | ||||||
Add new Alias
Delete Alias:(Including Attributions) |
|||||||
| Location: | Chr: 15 Mapping Details/Browsers | ||||||
| Nomenclature History | |||||||
| All Expression Data: | 3 figures from 3 publications |
| Wild-type Stages, Structures: | Cleavage:4-cell (1.0h-1.25h) to Larval:Day 4 (96.0h-120.0h) |
blood vasculature, dorsal aorta, head, heart
|
|
| Curated Microarray Expression: | GEO (1) |
| Allele | Type | Localization | Consequence | Mutagen | Suppliers |
|---|---|---|---|---|---|
| la017552Tg | Transgenic Insertion | Unknown | Unknown | DNA | |
| p301 | Indel | Exon 26 | Premature Stop | ZINC_FINGER_NUCLEASE | |
| p302 | Indel | Exon 26 | Premature Stop | ZINC_FINGER_NUCLEASE | |
| p305 | Point Mutation | Exon 29 | Premature Stop | ENU | |
| sa848 | Point Mutation | Unknown | Premature Stop | ENU |
|
| sa10931 | Point Mutation | Unknown | Premature Stop | ENU |
|
| sa22671 | Point Mutation | Unknown | Premature Stop | ENU |
|
| sa22672 | Point Mutation | Unknown | Premature Stop | ENU |
|
| sa22673 | Point Mutation | Unknown | Premature Stop | ENU |
|
| sa32043 | Point Mutation | Unknown | Premature Stop | ENU |
|
| sa35917 | Point Mutation | Unknown | Splice Site | ENU | |
| sa35918 | Point Mutation | Unknown | Premature Stop | ENU | |
| sa39056 | Point Mutation | Unknown | Premature Stop | ENU | |
| sa39057 | Point Mutation | Unknown | Premature Stop | ENU |
| Targeting reagents: | CRISPR1-nf1a (1), MO1-nf1a (1), MO2-nf1a (1), MO3-nf1a (1) |
| Data: | 4 figures from 3 publications |
| Observed in: |
atrioventricular valve, blood circulation, intersegmental vessel, memory
|
| Disease Ontology Term | OMIM Term | OMIM Phenotype ID |
|---|---|---|
| juvenile myelomonocytic leukemia | Leukemia, juvenile myelomonocytic | 607785 |
| neurofibromatosis | Neurofibromatosis, familial spinal | 162210 |
| Neurofibromatosis, type 1 | 162200 | |
| Neurofibromatosis-Noonan syndrome | 601321 | |
| Watson syndrome | 193520 |
| Ontology | GO Term |
|---|---|
| Biological Process | blood vessel development (more) |
| Cellular Component | cytoplasm (more) |
| Molecular Function | GTPase activator activity (more) |
|
|
|
|
| Type | Name | Length (bp) | Analysis | |
|---|---|---|---|---|
| mRNA | nf1a-001 (1) | 11386 |
Select Tool
|
|
| nf1a-002 (1) | 689 |
Select Tool
|
| nf1aContained in: | [BAC] CH211-209M20 (1) (order this) |
| nf1aContains: | [STS] stsnf1 (1) |
| nf1aEncodes: | [EST] fe06d03, zehn0874 |
| Type | Accession # | Length (bp/aa) | Analysis |
|---|---|---|---|
| RNA | RefSeq:XM_009291764 (1) | 11426bp |
Select Tool
|
| Genomic | GenBank:BX000438 (1) | 195087bp | |
| Polypeptide | UniProtKB:E7FBD0 (1) | 2777aa |
Select Tool
|
| Sequence Clusters | UniGene:105499 (1) |
|
|