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Search results 1 to 100 out of 232 for Smchd1

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0.066s
Type Details Score
Protein Domain
Type: Family
Description: This entry represents structural maintenance of chromosomes flexible hinge domain-containing (SMC-FH) animal proteins, including human Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1)SMC-FH proteins are atypical SMC proteins, characterised by their unique homodimeric arrangement and ATPase activity. SMC-FH plays a crucial role in epigenetic silencing by regulating chromatin architecture and promoting heterochromatin formation on both autosomes and the X chromosome. It is essential for X chromosome inactivation in females, facilitating the spreading of heterochromatin and creating a compartment-less nuclear architecture. Additionally, it is involved in silencing specific autosomal loci and contributes to DNA repair by promotingnon-homologous end joining and inhibiting homologous recombination [, , , ].
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Gene
Type: gene
Organism: human
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Gene
Type: gene
Organism: frog, western clawed
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Gene
Type: gene
Organism: rat
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Gene
Type: gene
Organism: chimpanzee
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Gene
Type: gene
Organism: dog, domestic
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Gene
Type: gene
Organism: cattle
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Gene
Type: gene
Organism: chicken
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Gene
Type: gene
Organism: zebrafish
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Gene
Type: gene
Organism: macaque, rhesus
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
First Author: Lemmers RJ
Year: 2012
Journal: Nat Genet
Title: Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Volume: 44
Issue: 12
Pages: 1370-4
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Protein
Organism: Mus musculus/domesticus
Length: 87  
Fragment?: true
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Publication
First Author: Gurzau AD
Year: 2018
Journal: J Biol Chem
Title: FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
Volume: 293
Issue: 25
Pages: 9841-9853
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Publication
First Author: Coker H
Year: 2014
Journal: J Cell Sci
Title: SMCHD1 accumulates at DNA damage sites and facilitates the repair of DNA double-strand breaks.
Volume: 127
Issue: Pt 9
Pages: 1869-74
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Protein
Organism: Mus musculus/domesticus
Length: 119  
Fragment?: true
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Publication    
First Author: Wanigasuriya I
Year: 2020
Journal: Elife
Title: Smchd1 is a maternal effect gene required for genomic imprinting.
Volume: 9
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Publication
First Author: Leong HS
Year: 2013
Journal: Cancer Res
Title: Epigenetic regulator Smchd1 functions as a tumor suppressor.
Volume: 73
Issue: 5
Pages: 1591-9
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Publication
First Author: Benetti N
Year: 2022
Journal: Nat Commun
Title: Maternal SMCHD1 regulates Hox gene expression and patterning in the mouse embryo.
Volume: 13
Issue: 1
Pages: 4295
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Publication
First Author: Jansz N
Year: 2018
Journal: Nat Struct Mol Biol
Title: Smchd1 regulates long-range chromatin interactions on the inactive X chromosome and at Hox clusters.
Volume: 25
Issue: 9
Pages: 766-777
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Publication
First Author: Wanigasuriya I
Year: 2022
Journal: Epigenetics Chromatin
Title: Maternal SMCHD1 controls both imprinted Xist expression and imprinted X chromosome inactivation.
Volume: 15
Issue: 1
Pages: 26
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Publication
First Author: Chen K
Year: 2016
Journal: Biochem J
Title: The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain.
Volume: 473
Issue: 12
Pages: 1733-44
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Publication
First Author: Tapia Del Fierro A
Year: 2023
Journal: Nat Commun
Title: SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.
Volume: 14
Issue: 1
Pages: 5466
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Publication
First Author: Tang M
Year: 2014
Journal: J Biol Chem
Title: Structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) promotes non-homologous end joining and inhibits homologous recombination repair upon DNA damage.
Volume: 289
Issue: 49
Pages: 34024-32
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Publication
First Author: Nozawa RS
Year: 2013
Journal: Nat Struct Mol Biol
Title: Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway.
Volume: 20
Issue: 5
Pages: 566-73
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Publication
First Author: Wang CY
Year: 2018
Journal: Cell
Title: SMCHD1 Merges Chromosome Compartments and Assists Formation of Super-Structures on the Inactive X.
Volume: 174
Issue: 2
Pages: 406-421.e25
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Publication
First Author: de Greef JC
Year: 2018
Journal: Hum Mol Genet
Title: Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
Volume: 27
Issue: 4
Pages: 716-731
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Publication
First Author: Kinkel SA
Year: 2022
Journal: iScience
Title: Epigenetic modifier SMCHD1 maintains a normal pool of long-term hematopoietic stem cells.
Volume: 25
Issue: 7
Pages: 104684
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Publication
First Author: Tian X
Year: 2023
Journal: mBio
Title: Genome-Wide CRISPR-Cas9 Screen Identifies SMCHD1 as a Restriction Factor for Herpesviruses.
Volume: 14
Issue: 2
Pages: e0054923
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Protein
Organism: Mus musculus/domesticus
Length: 2007  
Fragment?: false
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Publication
First Author: Jansz N
Year: 2018
Journal: Cell Rep
Title: Smchd1 Targeting to the Inactive X Is Dependent on the Xist-HnrnpK-PRC1 Pathway.
Volume: 25
Issue: 7
Pages: 1912-1923.e9
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Publication
First Author: Engal E
Year: 2024
Journal: Sci Adv
Title: DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.
Volume: 10
Issue: 22
Pages: eadn7732
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Publication
First Author: Gdula MR
Year: 2019
Journal: Nat Commun
Title: The non-canonical SMC protein SmcHD1 antagonises TAD formation and compartmentalisation on the inactive X chromosome.
Volume: 10
Issue: 1
Pages: 30
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Publication
First Author: Brideau NJ
Year: 2015
Journal: Mol Cell Biol
Title: Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.
Volume: 35
Issue: 23
Pages: 4053-68
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Publication
First Author: Chen K
Year: 2016
Journal: Biochem J
Title: The hinge domain of the epigenetic repressor Smchd1 adopts an unconventional homodimeric configuration.
Volume: 473
Issue: 6
Pages: 733-42
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Publication  
First Author: Ichihara S
Year: 2022
Journal: Development
Title: SmcHD1 underlies the formation of H3K9me3 blocks on the inactive X chromosome in mice.
Volume: 149
Issue: 15
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Publication
First Author: Wang CY
Year: 2019
Journal: Genetics
Title: Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans.
Volume: 213
Issue: 2
Pages: 685-703
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Publication
First Author: Gendrel AV
Year: 2013
Journal: Mol Cell Biol
Title: Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes.
Volume: 33
Issue: 16
Pages: 3150-65
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Publication  
First Author: Sakakibara Y
Year: 2018
Journal: Development
Title: Role of SmcHD1 in establishment of epigenetic states required for the maintenance of the X-inactivated state in mice.
Volume: 145
Issue: 18
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Publication
First Author: Mould AW
Year: 2013
Journal: Epigenetics Chromatin
Title: Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation.
Volume: 6
Issue: 1
Pages: 19
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Publication
First Author: Ruebel ML
Year: 2019
Journal: Am J Physiol Cell Physiol
Title: SMCHD1 terminates the first embryonic genome activation event in mouse two-cell embryos and contributes to a transcriptionally repressive state.
Volume: 317
Issue: 4
Pages: C655-C664
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Publication
First Author: Roberts AR
Year: 2011
Journal: Chromosoma
Title: Reduced dosage of the modifiers of epigenetic reprogramming Dnmt1, Dnmt3L, SmcHD1 and Foxo3a has no detectable effect on mouse telomere length in vivo.
Volume: 120
Issue: 4
Pages: 377-85
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GXD Expression
Probe: MGI:4354373
Assay Type: In situ reporter (knock in)
Annotation Date: 2024-12-05
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:318653
Pattern: Not Specified
Stage: TS03
Assay Id: MGI:7785354
Age: embryonic day 2.5
Image: S1-1c Smchd1<+/+> F x Smchd1 M 8-cell
Note: Using immunofluorescence antibody staining (rather than direct visualization) found very low levels of paternal Smchd1 switching on from the 8-cell stage (66% positive%). The expression is much lower than maternal Smchd1 at this time.
Specimen Label: S1-1c Smchd1<+/+> F x Smchd1 M 8-cell
Detected: true
Specimen Num: 3
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GXD Expression
Probe: MGI:4354373
Assay Type: In situ reporter (knock in)
Annotation Date: 2024-12-05
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:160404
Pattern: Not Specified
Stage: TS04
Assay Id: MGI:7785354
Age: embryonic day 2.75
Image: S1-1c Smchd1<+/+> F x Smchd1 M 12-16-cell
Note: Using immunofluorescence antibody staining (rather than direct visualization) found very low levels of paternal Smchd1 switching on from the 8-cell stage (100% positive). The expression is much lower than maternal Smchd1 at this time.
Specimen Label: S1-1c Smchd1<+/+> F x Smchd1 M 12-16-cell
Detected: true
Specimen Num: 4
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GXD Expression
Probe: MGI:4354373
Assay Type: In situ reporter (knock in)
Annotation Date: 2024-12-05
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:160404
Pattern: Not Specified
Stage: TS04
Assay Id: MGI:7785354
Age: embryonic day 3.0
Image: S1-1c Smchd1<+/+> F x Smchd1 M 24-32-cell
Note: Using immunofluorescence antibody staining (rather than direct visualization) found very low levels of paternal Smchd1 switching on from the 8-cell stage (100% positive). The expression is much lower than maternal Smchd1 at this time.
Specimen Label: S1-1c Smchd1<+/+> F x Smchd1 M 24-32-cell
Detected: true
Specimen Num: 5
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Publication  
First Author: Liu R
Year: 2016
Journal: Genom Data
Title: Transcriptional profiling of the epigenetic regulator Smchd1.
Volume: 7
Pages: 144-7
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Publication
First Author: Chen K
Year: 2015
Journal: Proc Natl Acad Sci U S A
Title: Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation.
Volume: 112
Issue: 27
Pages: E3535-44
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Publication
First Author: Blewitt ME
Year: 2008
Journal: Nat Genet
Title: SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation.
Volume: 40
Issue: 5
Pages: 663-9
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Publication
First Author: Midic U
Year: 2018
Journal: Mol Reprod Dev
Title: Novel key roles for structural maintenance of chromosome flexible domain containing 1 (Smchd1) during preimplantation mouse development.
Volume: 85
Issue: 7
Pages: 635-648
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Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
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GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Specimen Label: F
Detected: true
Specimen Num: 1
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GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Specimen Label: F
Detected: true
Specimen Num: 2
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GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Specimen Label: M
Detected: true
Specimen Num: 3
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GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Specimen Label: M
Detected: true
Specimen Num: 4
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GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Specimen Label: F
Detected: true
Specimen Num: 5
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GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Specimen Label: F
Detected: true
Specimen Num: 6
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GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Specimen Label: M
Detected: true
Specimen Num: 7
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GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Specimen Label: M
Detected: true
Specimen Num: 8
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GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Specimen Label: F
Detected: false
Specimen Num: 9
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GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Specimen Label: F
Detected: false
Specimen Num: 10
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GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Specimen Label: M
Detected: false
Specimen Num: 11
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GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Specimen Label: M
Detected: false
Specimen Num: 12
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GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Specimen Label: F
Detected: true
Specimen Num: 1
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GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Specimen Label: F
Detected: true
Specimen Num: 2
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GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Specimen Label: M
Detected: true
Specimen Num: 3
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GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Specimen Label: M
Detected: true
Specimen Num: 4
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GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Specimen Label: F
Detected: true
Specimen Num: 5
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•
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Specimen Label: F
Detected: true
Specimen Num: 6
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GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Specimen Label: M
Detected: true
Specimen Num: 7
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•
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Specimen Label: M
Detected: true
Specimen Num: 8
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•
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Specimen Label: F
Detected: false
Specimen Num: 9
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•
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Specimen Label: F
Detected: false
Specimen Num: 10
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GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Specimen Label: M
Detected: false
Specimen Num: 11
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GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Specimen Label: M
Detected: false
Specimen Num: 12
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GXD Expression    
Probe: MGI:6457353
Assay Type: RT-PCR
Annotation Date: 2020-09-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360354
Stage: TS04
Assay Id: MGI:6457358
Age: embryonic day 3.5
Image: 4
Specimen Label: Cdx2
Detected: true
Specimen Num: 2
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GXD Expression    
Probe: MGI:6457353
Assay Type: RT-PCR
Annotation Date: 2020-09-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360355
Stage: TS05
Assay Id: MGI:6457362
Age: embryonic day 4.25
Image: 4
Specimen Label: Cdx2
Detected: true
Specimen Num: 2
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GXD Expression    
Probe: MGI:6457353
Assay Type: RT-PCR
Annotation Date: 2020-09-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360354
Stage: TS04
Assay Id: MGI:6457358
Age: embryonic day 3.5
Image: 4
Specimen Label: non-mutant
Detected: true
Specimen Num: 1
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GXD Expression    
Probe: MGI:6457353
Assay Type: RT-PCR
Annotation Date: 2020-09-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360355
Stage: TS05
Assay Id: MGI:6457362
Age: embryonic day 4.25
Image: 4
Specimen Label: non-mutant
Detected: true
Specimen Num: 1
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GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429140
Age: embryonic day 10.5
Specimen Label: F D1/D1
Detected: true
Specimen Num: 1
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•
•
•
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GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429140
Age: embryonic day 10.5
Specimen Label: F D1/+
Detected: true
Specimen Num: 2
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•
•
•
•
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429140
Age: embryonic day 10.5
Specimen Label: F +/+
Detected: true
Specimen Num: 3
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•
•
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