Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:4417582 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1763923 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825355 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_010717_18 |
|
Specimen Label: |
euxassay_010717_18 |
Detected: |
true |
Specimen Num: |
18 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4417582 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1763923 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825355 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_010717_19 |
|
Specimen Label: |
euxassay_010717_19 |
Detected: |
true |
Specimen Num: |
19 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4417582 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1763923 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825355 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_010717_20 |
|
Specimen Label: |
euxassay_010717_20 |
Detected: |
true |
Specimen Num: |
20 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4417582 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1763923 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825355 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_010717_21 |
|
Specimen Label: |
euxassay_010717_21 |
Detected: |
true |
Specimen Num: |
21 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4417582 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1763923 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825355 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_010717_22 |
|
Specimen Label: |
euxassay_010717_22 |
Detected: |
true |
Specimen Num: |
22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kannan M |
Year: |
2017 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. |
Volume: |
114 |
Issue: |
44 |
Pages: |
E9308-E9317 |
|
•
•
•
•
•
|
Publication |
First Author: |
Butterfield NC |
Year: |
2021 |
Journal: |
Nat Commun |
Title: |
Accelerating functional gene discovery in osteoarthritis. |
Volume: |
12 |
Issue: |
1 |
Pages: |
467 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shanghai Model Organisms Center |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
MGC Data curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Ingham NJ |
Year: |
2019 |
Journal: |
PLoS Biol |
Title: |
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. |
Volume: |
17 |
Issue: |
4 |
Pages: |
e3000194 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGI and IMPC |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
MGI Curation of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Function or Process or Component Unknown following Literature Review |
|
|
|
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen GM |
Year: |
2008 |
Journal: |
Genome Res |
Title: |
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. |
Volume: |
18 |
Issue: |
10 |
Pages: |
1670-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
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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. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
|
•
•
•
•
•
|
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: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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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: |
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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|
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|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
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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|
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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 |
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|
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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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Utine GE |
Year: |
2017 |
Journal: |
Eur J Med Genet |
Title: |
HERC1 mutations in idiopathic intellectual disability. |
Volume: |
60 |
Issue: |
5 |
Pages: |
279-283 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chong-Kopera H |
Year: |
2006 |
Journal: |
J Biol Chem |
Title: |
TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. |
Volume: |
281 |
Issue: |
13 |
Pages: |
8313-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bachiller S |
Year: |
2015 |
Journal: |
Cell Mol Life Sci |
Title: |
The HERC1 E3 Ubiquitin Ligase is essential for normal development and for neurotransmission at the mouse neuromuscular junction. |
Volume: |
72 |
Issue: |
15 |
Pages: |
2961-71 |
|
•
•
•
•
•
|
Publication |
First Author: |
Aggarwal S |
Year: |
2016 |
Journal: |
Am J Med Genet A |
Title: |
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. |
Volume: |
170 |
Issue: |
7 |
Pages: |
1868-73 |
|
•
•
•
•
•
|
Allele |
Name: |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1; tambaleante |
Allele Type: |
Spontaneous |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Rosa JL |
Year: |
1997 |
Journal: |
Oncogene |
Title: |
A giant protein that stimulates guanine nucleotide exchange on ARF1 and Rab proteins forms a cytosolic ternary complex with clathrin and Hsp70. |
Volume: |
15 |
Issue: |
1 |
Pages: |
1-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rosa JL |
Year: |
1996 |
Journal: |
EMBO J |
Title: |
p619, a giant protein related to the chromosome condensation regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and Rab proteins. |
Volume: |
15 |
Issue: |
16 |
Pages: |
4262-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ruiz R |
Year: |
2016 |
Journal: |
Front Neuroanat |
Title: |
HERC 1 Ubiquitin Ligase Mutation Affects Neocortical, CA3 Hippocampal and Spinal Cord Projection Neurons: An Ultrastructural Study. |
Volume: |
10 |
|
Pages: |
42 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This SPRY domain is found in the HERC1, a large protein related to chromosome condensation regulator RCC1. It is widely expressed in many tissues, playing an important role in intracellular membrane trafficking in the cytoplasm as well as Golgi apparatus [, ]. It is both a ubiquitin-protein ligase and a guanine nucleotide exchange factor for ARF and Rab family GTPases. Like other HERC proteins, HERC1 also interacts with tuberous sclerosis 2 (TSC2, tuberin), which suppresses cell growth, and results in the destabilization of TSC2 []. HERC1 is essential for neurotransmitter release and neuronal activity [, ]. Mutations in HERC1 lead to syndromic intellectual disability [, ]. |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, spontaneous mutation |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Herc1/Herc1 |
Background: |
involves: DW/J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Roy DS |
Year: |
2021 |
Journal: |
Neuron |
Title: |
Anterior thalamic dysfunction underlies cognitive deficits in a subset of neuropsychiatric disease models. |
Volume: |
109 |
Issue: |
16 |
Pages: |
2590-2603.e13 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
367
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
4859
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Gerhard DS |
Year: |
2004 |
Journal: |
Genome Res |
Title: |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
Volume: |
14 |
Issue: |
10B |
Pages: |
2121-7 |
|
•
•
•
•
•
|