Stock B6.129P2-Cited2<tm1Bha>/BhaH

FESA Number


Strain Name


Mutation Strain Type

Mutation Type Mutation Subtype Strain Type
IMSR - Targeted mutation IMSR - mutant strain


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

Phenotypic Description

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
99 105 Atrial septal defect, sinus venosus type
99 103 Atrial septal defect, ostium secundum type
99 097 Single ventricular septal defect
101 063 Situs inversus totalis


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


Orphanet Categories

Rare developmental defect during embryogenesis
Rare surgical cardiac disease



Genetic Status


Background Strain Name


Background Strain MGI ID



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