Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:3724350 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1768022 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5421010 |
Age: |
embryonic day 14.5 |
|
Note: |
Expression was not detected in the skull (base and vault). |
Specimen Label: |
MH403; Specimen C1095 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1868228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691559 |
Age: |
postnatal adult |
Image: |
UC Davis_1881076 |
|
Specimen Label: |
UC Davis_1881076 |
Detected: |
true |
Specimen Num: |
59 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3724350 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:2672022 |
Pattern: |
Regionally restricted |
Stage: |
TS22 |
Assay Id: |
MGI:5421010 |
Age: |
embryonic day 14.5 |
Image: |
MH403; Specimen C1095 |
Note: |
Expression was detected in whisker follicle. |
Specimen Label: |
MH403; Specimen C1095 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1881228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691559 |
Age: |
postnatal adult |
Image: |
UC Davis_1881082 |
|
Specimen Label: |
UC Davis_1881082 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1881228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691559 |
Age: |
postnatal adult |
Image: |
UC Davis_1881047 |
|
Specimen Label: |
UC Davis_1881047 |
Detected: |
true |
Specimen Num: |
34 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1881228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691559 |
Age: |
postnatal adult |
Image: |
UC Davis_1881048 |
|
Specimen Label: |
UC Davis_1881048 |
Detected: |
true |
Specimen Num: |
35 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1881228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691559 |
Age: |
postnatal adult |
Image: |
UC Davis_1881049 |
|
Specimen Label: |
UC Davis_1881049 |
Detected: |
true |
Specimen Num: |
36 |
|
•
•
•
•
•
|
Publication |
First Author: |
Errico A |
Year: |
2004 |
Journal: |
Hum Mol Genet |
Title: |
Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon. |
Volume: |
13 |
Issue: |
18 |
Pages: |
2121-32 |
|
•
•
•
•
•
|
Publication |
First Author: |
Murmu RP |
Year: |
2011 |
Journal: |
Mol Cell Neurosci |
Title: |
Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. |
Volume: |
47 |
Issue: |
3 |
Pages: |
191-202 |
|
•
•
•
•
•
|
Publication |
First Author: |
Brill MS |
Year: |
2016 |
Journal: |
Neuron |
Title: |
Branch-Specific Microtubule Destabilization Mediates Axon Branch Loss during Neuromuscular Synapse Elimination. |
Volume: |
92 |
Issue: |
4 |
Pages: |
845-856 |
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•
•
•
•
•
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Publication |
First Author: |
Zempel H |
Year: |
2013 |
Journal: |
EMBO J |
Title: |
Amyloid-β oligomers induce synaptic damage via Tau-dependent microtubule severing by TTLL6 and spastin. |
Volume: |
32 |
Issue: |
22 |
Pages: |
2920-37 |
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•
•
•
•
•
|
Publication |
First Author: |
Magiera MM |
Year: |
2018 |
Journal: |
EMBO J |
Title: |
Excessive tubulin polyglutamylation causes neurodegeneration and perturbs neuronal transport. |
Volume: |
37 |
Issue: |
23 |
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|
•
•
•
•
•
|
Publication |
First Author: |
Lacroix B |
Year: |
2010 |
Journal: |
J Cell Biol |
Title: |
Tubulin polyglutamylation stimulates spastin-mediated microtubule severing. |
Volume: |
189 |
Issue: |
6 |
Pages: |
945-54 |
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•
•
•
•
•
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Publication |
First Author: |
Quwailid MM |
Year: |
2004 |
Journal: |
Mamm Genome |
Title: |
A gene-driven ENU-based approach to generating an allelic series in any gene. |
Volume: |
15 |
Issue: |
8 |
Pages: |
585-91 |
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•
•
•
•
•
|
Publication |
First Author: |
Eom TY |
Year: |
2014 |
Journal: |
Dev Cell |
Title: |
Differential regulation of microtubule severing by APC underlies distinct patterns of projection neuron and interneuron migration. |
Volume: |
31 |
Issue: |
6 |
Pages: |
677-89 |
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•
•
•
•
•
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Publication |
First Author: |
Ho KH |
Year: |
2023 |
Journal: |
Dev Cell |
Title: |
Choroid plexuses carry nodal-like cilia that undergo axoneme regression from early adult stage. |
Volume: |
58 |
Issue: |
23 |
Pages: |
2641-2651.e6 |
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•
•
•
•
•
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Publication |
First Author: |
UniProt curators |
Year: |
2014 |
|
Title: |
Electronic Gene Ontology annotations created by transferring manual GO annotations between related proteins based on shared sequence features |
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•
•
•
•
•
|
Publication |
First Author: |
Okazaki N |
Year: |
2003 |
Journal: |
DNA Res |
Title: |
Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. |
Volume: |
10 |
Issue: |
4 |
Pages: |
167-80 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mutant Mouse Regional Resource Centers |
Year: |
2004 |
Journal: |
Unpublished |
Title: |
Information obtained from the Mutant Mouse Regional Resource Centers (MMRRC) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
Gene Ontology Annotation by the MGI Curatorial Staff |
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|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen J |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. |
Volume: |
100 |
Issue: |
17 |
Pages: |
9918-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2016 |
|
Title: |
Automatic assignment of GO terms using logical inference, based on on inter-ontology links |
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|
•
•
•
•
•
|
Publication |
First Author: |
Koscielny G |
Year: |
2014 |
Journal: |
Nucleic Acids Res |
Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
Volume: |
42 |
Issue: |
Database issue |
Pages: |
D802-9 |
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•
•
•
•
•
|
Publication |
First Author: |
Visel A |
Year: |
2004 |
Journal: |
Nucleic Acids Res |
Title: |
GenePaint.org: an atlas of gene expression patterns in the mouse embryo. |
Volume: |
32 |
Issue: |
Database issue |
Pages: |
D552-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Stryke D |
Year: |
2003 |
Journal: |
Nucleic Acids Res |
Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
Volume: |
31 |
Issue: |
1 |
Pages: |
278-81 |
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•
•
•
•
•
|
Publication |
First Author: |
Bedogni F |
Year: |
2021 |
Journal: |
Front Mol Neurosci |
Title: |
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. |
Volume: |
14 |
|
Pages: |
686034 |
|
•
•
•
•
•
|
Publication |
First Author: |
International Knockout Mouse Consortium |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of modified allele data from IKMC and creation of new knockout alleles |
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|
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|
•
•
•
•
•
|
Publication |
First Author: |
International Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
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•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2009 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
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|
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|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
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•
•
•
•
•
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Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
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•
•
•
•
•
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Publication |
First Author: |
DDB, FB, MGI, GOA, ZFIN curators |
Year: |
2001 |
|
Title: |
Gene Ontology annotation through association of InterPro records with GO terms |
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•
•
•
•
•
|
Publication |
First Author: |
Magdaleno S |
Year: |
2006 |
Journal: |
PLoS Biol |
Title: |
BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. |
Volume: |
4 |
Issue: |
4 |
Pages: |
e86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database |
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•
•
•
•
•
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Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
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•
•
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•
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Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
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Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
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Title: |
Nomenclature Committee Use |
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•
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Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
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Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
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Title: |
GemPharmatech Website. |
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Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
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Publication |
First Author: |
Cyagen Biosciences Inc. |
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Title: |
Cyagen Biosciences Website. |
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Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
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Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
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Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
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Publication |
First Author: |
GOA curators |
Year: |
2016 |
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Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
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Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
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Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
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Issue: |
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Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
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Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
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Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
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Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
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Title: |
Annotation inferences using phylogenetic trees |
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Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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•
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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•
•
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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•
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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•
•
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•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
Allele |
Name: |
spastin; targeted mutation 1.1, Judith Melki |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
spastin; mutation 1, Andrew J Grierson |
Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
Allele |
Name: |
gene trap ROSA 26, Philippe Soriano; targeted mutation 1.1, Peter Baas |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
spastin; targeted mutation 1.1, Evan Reid |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, Humanized sequence |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Spast/Spast |
Background: |
involves: C57BL/6J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Spast/Spast |
Background: |
B6.C-Spast |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Gt(ROSA)26Sor/Gt(ROSA)26Sor |
Background: |
involves: C57BL/6N |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> |
Background: |
involves: C57BL/6N |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Spast/Spast |
Background: |
C57BL/6-Spast |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Qiang L |
Year: |
2019 |
Journal: |
Hum Mol Genet |
Title: |
Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse. |
Volume: |
28 |
Issue: |
7 |
Pages: |
1136-1152 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
119
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
160
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Pfannenschmid F |
Year: |
2003 |
Journal: |
J Cell Sci |
Title: |
Chlamydomonas DIP13 and human NA14: a new class of proteins associated with microtubule structures is involved in cell division. |
Volume: |
116 |
Issue: |
Pt 8 |
Pages: |
1449-62 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ramos-Morales F |
Year: |
1998 |
Journal: |
J Biol Chem |
Title: |
NA14 is a novel nuclear autoantigen with a coiled-coil domain. |
Volume: |
273 |
Issue: |
3 |
Pages: |
1634-9 |
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Publication |
First Author: |
Nozawa K |
Year: |
2009 |
Journal: |
Front Biosci (Landmark Ed) |
Title: |
Autoantibody to NA14 is an independent marker primarily for Sjogren's syndrome. |
Volume: |
14 |
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Pages: |
3733-9 |
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Publication |
First Author: |
Schoppmeier J |
Year: |
2005 |
Journal: |
Cell Motil Cytoskeleton |
Title: |
GFP as a tool for the analysis of proteins in the flagellar basal apparatus of Chlamydomonas. |
Volume: |
61 |
Issue: |
4 |
Pages: |
189-200 |
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Publication |
First Author: |
Goyal U |
Year: |
2014 |
Journal: |
PLoS One |
Title: |
Spastin-interacting protein NA14/SSNA1 functions in cytokinesis and axon development. |
Volume: |
9 |
Issue: |
11 |
Pages: |
e112428 |
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Publication |
First Author: |
Aki T |
Year: |
2008 |
Journal: |
J Cell Physiol |
Title: |
TPRA40/GPR175 regulates early mouse embryogenesis through functional membrane transport by Sjögren's syndrome-associated protein NA14. |
Volume: |
217 |
Issue: |
1 |
Pages: |
194-206 |
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Publication |
First Author: |
Lawrence EJ |
Year: |
2021 |
Journal: |
Elife |
Title: |
SSNA1 stabilizes dynamic microtubules and detects microtubule damage. |
Volume: |
10 |
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Protein Domain |
Type: |
Family |
Description: |
Sjoegren syndrome nuclear autoantigen 1 (SSNA1/NA14) is a major specific target for autoantibodies in Sjögren's Syndrome, a highly prevalent autoimmune disease [, ]. SSNA1 is a microtubule-binding protein which stabilizes dynamic microtubules by slowing growth and shrinkage at both plus and minus ends and serves as a sensor of microtubule damage, protecting microtubules from the microtubule-severing enzyme SPAST []. SSNA1 can assemble into large fibrils, a structure that is important for its interaction with spastin as well as for microtubule dynamics []. It is also a binding partner for the G-protein coupled receptor TPRA40, which regulates early mouse embryogenesis []. Orthologues of SSNA1 are absent from the common eukaryotic model systems Saccharomyces cerevisiae, Caenorhabditis elegans and Drosophila melanogaster but are encoded by the genomes of the flagellated green alga Chlamydomonas reinhardtii (where it is known as deflagellation-inducible protein of 13kDa, DIP13), trematode worms and protozoan parasites. Chlamydomonas reinhardtii DIP13 is localised to centrioles, flagella and cytoplasmic microtubules. It is involved in cell division and flagellar assembly [, ]. |
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Publication |
First Author: |
Zhou Y |
Year: |
2019 |
Journal: |
Front Cell Neurosci |
Title: |
Comparative Phosphoproteomic Profiling of Type III Adenylyl Cyclase Knockout and Control, Male, and Female Mice. |
Volume: |
13 |
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Pages: |
34 |
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