Stock B6.129-Cited2<tm2Bha>/H

FESA Number

3353

Strain Name

B6.129-Cited2<tm2Bha>/H

Mutation Strain Type

Mutation Type Mutation Subtype Strain Type
IMSR - Targeted mutation IMSR - unclassified

Attribution

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

Gene/Allele Information

Allele Name Allele MGI ID Gene Name Gene MGI ID Chromosome
Cited2<tm2Bha> MGI:3803778 Cited2 MGI:1306784 10

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

Displaying 1 - 3 of 3 Stock Publications
Pubmed ID Authors Title Journal
19951693 Kranc KR Cited2 is an essential regulator of adult hematopoietic stem cells. Cell Stem Cell (2 009) 5:659-65
18440989 MacDonald ST Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency. Cardiovasc Res (2 008) 79:448-57
22504313 MacDonald ST A cell-autonomous role of Cited2 in controlling myocardial and coronary vascular development. Eur Heart J (2 013) 34:2557-65

Orphanet Categories

Rare developmental defect during embryogenesis
Rare surgical cardiac disease

EMMA ID

EM:03111

Contact/Order

For more information or to order stocks, Contact us