Stock B6.129-Cited2<tm2Bha>/H

FESA Number

3353

Strain Name

B6.129-Cited2<tm2Bha>/H

Mutation Strain Type

Attribution

Institution name Depositor / Originator Name
University of Oxford Originator Retained
University of Oxford Depositor Retained

Phenotypic Description

Cre-mediated recombination throughout the entire epiblast of early embryos recapitulates the complete loss of function phenotype of Cited2, which include cardiac malformations, adrenal agenesis, fusion of cranial ganglia, abnormal cardiac neural crest migration, excencephaly and left right patterning defects.

Orphanet Disorders

OrphaNet ID Name Url
3 303 Tetralogy of Fallot http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3303
99 105 Atrial septal defect, sinus venosus type http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99105
99 103 Atrial septal defect, ostium secundum type http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99103
99 097 Single ventricular septal defect http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99097
101 063 Situs inversus totalis http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101063

Publications

Orphanet Categories

Rare developmental defect during embryogenesis
Rare surgical cardiac disease

EMMA ID

EM:03111

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