HuDSeN:552

ESCO2 establishment of cohesion 1 homolog 2 (S. cerevisiae)(NM_001017420)
CS CS21
in situ hybridisation

Data Images
HuDSeN:552 HuDSeN:552 HuDSeN:552
N641_cs21_247x1.25 N641_cs21_247x5 N641_cs21_247x5
Expression pattern clarity: two stars
Detection Reagent
Type:in situ hybridisation probe
Identifier:hECO2
Entity Detected:ESCO2, establishment of cohesion 1 homolog 2 (S. cerevisiae)(NM_001017420)
Sequence:nt 1344 - nt 1889 of NM_001017420
Probe generated from:genomic
Chemistry:RNA
Strand:antisense
Label:digoxigenin
Specimen
Organism:human
Carnegie Stage:CS21
Preparation:sectioned wholemount
Expression Pattern Description
Text Annotation:
StructureLevelPatternNotes
upper limb
moderate moderate
not applicableN641_cs21_247x1.25; N641_cs21_247x5
spinal ganglion
strong strong
not applicableN641_cs21_247x1.25; N641_cs21_247x5a
dorsal root ganglion
strong strong
not applicable
Procedures
Fixation:4% paraformaldehyde
Staining procedure:alkaline phosphatase + NBT/BCIP
General Information
Principal investigator:Dr. Alison Trainer, Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK NE1 3BZ
Submitted by:Dr. Yuzhu Cheng, Insitute of Human Genetics, Newcastle University, International Centre For Life, Central Parkway, Newcastle upon Tyne, UK NE1 3BZ
Experiment type:non-screen
References:PMID: 19574259 Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW. 2010 Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet. (47):30-7
Acknowledgments:The human embryonic material was provided by the Joint MRC-Wellcome Trust Human Developmental Biology Resource (http://www.hdbr.org) at the IHG, Newcastle-upon-Tyne, UK
Links: EMAGE same gene
  Allen Brain Atlas same gene
  BioGPS same gene

Entries are submitted to the HuDSeN database using the official gene name, according to the HUGO Gene Nomenclature Committee, at the time of uploading. If an official gene name subsequently changes after submission of the entry to the database, the previous name may be shown in the table above.


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