Stock

FESA Number

3574

Strain Name

129S.129P2-Cited2<tm1Bha>/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<tm1Bha> MGI:2179740 Cited2 MGI:1306784 10

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 - 10 of 13 Stock Publications
Pubmed ID Authors Title Journal
15475956 Bamforth SD Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway. Nat Genet (2 004) 36:1189-96
11694877 Bamforth SD Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. Nat Genet (2 001) 29:469-74
20566713 Bentham J Maternal high-fat diet interacts with embryonic Cited2 genotype to reduce Pitx2c expression and enhance penetrance of left-right patterning defects. Hum Mol Genet (2 010) 19:3394-401
17615577 Boyle S Cited1 and Cited2 are differentially expressed in the developing kidney but are not required for nephrogenesis. Dev Dyn (2 007) 236:2321-30
23082118 Chen CM Functional significance of SRJ domain mutations in CITED2. PLoS One (2 012) 7:e46256
19951693 Kranc KR Cited2 is an essential regulator of adult hematopoietic stem cells. Cell Stem Cell (2 009) 5:659-65
14560011 Kranc KR Transcriptional coactivator Cited2 induces Bmi1 and Mel18 and controls fibroblast proliferation via Ink4a/ARF. Mol Cell Biol (2 003) 23:7658-66
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
20549734 Michell AC A novel role for transcription factor Lmo4 in thymus development through genetic interaction with Cited2. Dev Dyn (2 010) 239:1988-94

Pages

Orphanet Categories

Rare developmental defect during embryogenesis
Rare surgical cardiac disease

EMMA ID

EM:02570

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