B6.129-Cited2tm2Bha/H
| Status | Available to order |
| EMMA ID | EM:03111 |
| International strain name | B6.129-Cited2tm2Bha/H |
| Alternative name | Cited2-tm2Bha |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Cited2tm2Bha, |
| Gene/Transgene symbol | Cited2 |
Information from provider
| Provider | Shoumo Bhattacharya |
| Provider affiliation | Dept of Cardiovascular Medicine, University of Oxford |
| Genetic information | Targeting construct is derived from 129 DNA. For the original targeting construct, a loxP site was inserted upstream of exon 2, which contains the entire open reading frame, and an frt-flanked neo cassette with a 3' loxP site followed by a lacZ cassette was inserted downstream of exon 2. Germ line, flp-mediated recombination was used to remove the neo cassette leaving exon 2 flanked by 2 loxP sites and followed by the lacZ expression cassette. The allele was designed such that, after successful cre-mediated recombination, the lacZ expression cassette comes under the control of the endogenous Cited2 promoter. |
| Phenotypic information | 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, exencephaly and left-right patterning defects. |
| Breeding history | The line is maintained by backcrossing to C57BL/6J. It has been backcrossed 10+ generations and SNP genotyped. Currently estimated to be >99.8% C57BL/6J. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
| Animals used for archiving | heterozygous C57BL/6J |
| Breeding at archiving centre | Males were frozen upon arrival at the archiving centre. No breeding performed. |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Atrial septal defect, sinus venosus type / Orphanet_99105
- Atrial septal defect, ostium secundum type / Orphanet_99103
Literature references
- Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency.;MacDonald Simon T, Bamforth Simon D, Chen Chiann-Mun, Farthing Cassandra R, Franklyn Angela, Broadbent Carol, Schneider Jürgen E, Saga Yumiko, Lewandoski Mark, Bhattacharya Shoumo, ;2008;Cardiovascular research;79;448-57; 18440989