Stock B6.129P2-Cited2<tm1Bha>/BhaH
FESA Number
2026
Strain Name
B6.129P2-Cited2<tm1Bha>/BhaH
Mutation Strain Type
| Mutation Type | Mutation Subtype | Strain Type |
|---|---|---|
| IMSR - Targeted mutation | IMSR - mutant strain |
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 |
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 | 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:02569
Genetic Status
GMO
Background Strain Name
C57BL/6J
Background Strain MGI ID
MGI:3028467
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