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Search results 1 to 79 out of 79 for Actl7b

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Categories

Hits by Category

Hits by Strain

Type Details Score
Gene
10880 | ACTL7B
Type: gene
Organism: human
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Gene
313183 | Actl7b
Type: gene
Organism: rat
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Gene
481658 | ACTL7B
Type: gene
Organism: dog, domestic
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Gene
473013 | ACTL7B
Type: gene
Organism: chimpanzee
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Gene
515059 | ACTL7B
Type: gene
Organism: cattle
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Gene
710750 | ACTL7B
Type: gene
Organism: macaque, rhesus
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Protein Coding Gene
MGI:1343053 | Actl7b
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Domain
IPR027680 | ACTL7B
Type: Family
Description: Actin-like protein 7B belongs to the actin family. Its function is not clear. In humans, its expression is only detected in the testis and, to a lesser extent, in the prostate [].
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Publication
10373328 | J:56030
First Author: Chadwick BP
Year: 1999
Journal: Genomics
Title: Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.
Volume: 58
Issue: 3
Pages: 302-9
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Publication
37800308 | J:342836
 
First Author: Merges GE
Year: 2023
Journal: Development
Title: Actl7b deficiency leads to mislocalization of LC8 type dynein light chains and disruption of murine spermatogenesis.
Volume: 150
Issue: 21
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Publication
36617158 | J:334022
First Author: Clement TM
Year: 2023
Journal: Biol Reprod
Title: Actin-related protein ACTL7B ablation leads to OAT with multiple morphological abnormalities of the flagellum and male infertility in mice†.
Volume: 108
Issue: 3
Pages: 447-464
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Protein
Q9QY83
Organism: Mus musculus/domesticus
Length: 418  
Fragment?: false
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Protein
Q9CVR1
Organism: Mus musculus/domesticus
Length: 127  
Fragment?: true
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Protein Coding Gene
MGP_CAROLIEiJ_G0026036 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0028307 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0028268 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0028217 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0028287 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0028008 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_1343053 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0028728 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0027446 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0027973 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0028123 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0028090 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0028222 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0028114 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0028764 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0027171 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0027524 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0028372 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0026999 | -
Type: protein_coding_gene
Organism: Mus spretus
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GXD Expression
GXD Expression
 
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1868128
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6691441
Age: postnatal adult
Image: UC Davis_1885825
Note: vas deferens
Specimen Label: UC Davis_1885825
Detected: true
Specimen Num: 7
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1866628
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6691441
Age: postnatal adult
Image: UC Davis_1885819
Specimen Label: UC Davis_1885819
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6691441
Age: postnatal adult
Image: UC Davis_1885821
Specimen Label: UC Davis_1885821
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6691441
Age: postnatal adult
Image: UC Davis_1885822
Specimen Label: UC Davis_1885822
Detected: true
Specimen Num: 4
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1928728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6691441
Age: postnatal adult
Image: UC Davis_1885824
Specimen Label: UC Davis_1885824
Detected: true
Specimen Num: 6
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1929028
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6691441
Age: postnatal adult
Image: UC Davis_1885823
Specimen Label: UC Davis_1885823
Detected: true
Specimen Num: 5
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:3276428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6691441
Age: postnatal adult
Image: UC Davis_1885820
Specimen Label: UC Davis_1885820
Detected: true
Specimen Num: 2
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Publication
12704725 | J:83114
First Author: Hisano M
Year: 2003
Journal: Mol Reprod Dev
Title: Genomic structure and promoter activity of the testis haploid germ cell-specific intronless genes, Tact1 and Tact2.
Volume: 65
Issue: 2
Pages: 148-56
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Publication
12672658 | J:84562
First Author: Tanaka H
Year: 2003
Journal: Biol Reprod
Title: Novel actin-like proteins T-ACTIN 1 and T-ACTIN 2 are differentially expressed in the cytoplasm and nucleus of mouse haploid germ cells.
Volume: 69
Issue: 2
Pages: 475-82
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Publication
11747609 | J:72647
First Author: Cuajungco MP
Year: 2001
Journal: DNA Cell Biol
Title: Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
Volume: 20
Issue: 9
Pages: 579-86
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Publication
24194600 | J:228563
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
- | J:204739
     
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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Publication
- | J:136110
     
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
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Publication
- | J:204812
     
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
- | J:211773
     
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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Publication
- | J:157065
     
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
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Publication
- | J:342604
       
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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Publication
- | J:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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Publication
11217851 | J:65060
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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Publication
38355793 | J:345621
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
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
12466851 | J:80000
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
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Publication
21267068 | J:153498
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
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
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
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
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
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
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
- | J:155721
     
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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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144087
     
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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Allele
Tg(IKBKAP)#Sasl | MGI:5602871
Name: transgene insertion, Susan Slaugenkaupt
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
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Allele
Tg(IKBKAP*)#Sasl | MGI:5602879
Name: transgene insertion, Susan Slaugenkaupt
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Publication
29701768 | J:263783
First Author: Donadon I
Year: 2018
Journal: Hum Mol Genet
Title: Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Volume: 27
Issue: 14
Pages: 2466-2476
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Publication
38829854 | J:351078
First Author: Riccardi F
Year: 2024
Journal: PLoS One
Title: Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure.
Volume: 19
Issue: 6
Pages: e0298965
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Publication
17644305 | J:145261
First Author: Hims MM
Year: 2007
Journal: Genomics
Title: A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
Volume: 90
Issue: 3
Pages: 389-96
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Publication
29672717 | J:263727
First Author: Sinha R
Year: 2018
Journal: Nucleic Acids Res
Title: Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.
Volume: 46
Issue: 10
Pages: 4833-4844
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Publication
38177237 | J:351158
First Author: Harripaul R
Year: 2024
Journal: Sci Rep
Title: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Volume: 14
Issue: 1
Pages: 570
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Publication
30905397 | J:282833
First Author: Morini E
Year: 2019
Journal: Am J Hum Genet
Title: ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
Volume: 104
Issue: 4
Pages: 638-650
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Publication
26769677 | J:229459
First Author: Morini E
Year: 2016
Journal: Hum Mol Genet
Title: Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.
Volume: 25
Issue: 6
Pages: 1116-28
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Genotype
Genotype
Symbol: Elp1/Elp1 Tg(IKBKAP*)#Sasl/?
Background: involves: 129S1/Sv * C57BL/6N
Zygosity: cx
Has Mutant Allele: true
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Publication
37903840 | J:355345
First Author: Schultz A
Year: 2023
Journal: Sci Rep
Title: Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators.
Volume: 13
Issue: 1
Pages: 18600
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