B6.129-Cited2tm2Bha/H

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EMMA IDEM:03111
Citation informationRRID:IMSR_EM:03111 

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International strain nameB6.129-Cited2tm2Bha/H
Alternative nameCited2-tm2Bha
Strain typeTargeted Mutant Strains : Conditional mutation
Allele/Transgene symbolCited2tm2Bha
Gene/Transgene symbolCited2

Information from provider

ProviderShoumo Bhattacharya
Provider affiliationDept of Cardiovascular Medicine, University of Oxford
Genetic informationTargeting 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 informationcre-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 historyThe 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
  • 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
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archivingheterozygous C57BL/6J males
Breeding at archiving centreMales were frozen upon arrival at the archiving centre. No breeding performed.

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (gene matching)
  • abnormal neurocranium morphology / MGI
  • abnormal blood flow velocity / MGI
  • abnormal heart morphology / MGI
  • abnormal heart development / MGI
  • overriding aortic valve / MGI
  • abnormal interventricular septum morphology / MGI
  • double outlet right ventricle / MGI
  • abnormal atrioventricular cushion morphology / MGI
  • decreased atrioventricular cushion size / MGI
  • abnormal pulmonary trunk morphology / MGI
  • right-sided isomerism / MGI
  • abnormal kidney development / MGI
  • right pulmonary isomerism / MGI
  • dextrocardia / MGI
  • mesocardia / MGI
  • small spleen / MGI
  • exencephaly / MGI
  • open neural tube / MGI
  • fused dorsal root ganglion / MGI
  • small dorsal root ganglion / MGI
  • abnormal cranial ganglia morphology / MGI
  • abnormal lung development / MGI
  • decreased embryo size / MGI
  • abnormal embryo turning / MGI
  • abnormal left-right axis patterning / MGI
  • edema / MGI
  • postnatal lethality / MGI
  • abnormal neural tube morphology / MGI
  • no abnormal phenotype detected / MGI
  • hydrops fetalis / MGI
  • abnormal pulmonary alveolus morphology / MGI
  • abnormal pulmonary alveolus epithelial cell morphology / MGI
  • abnormal type I pneumocyte morphology / MGI
  • abnormal type II pneumocyte morphology / MGI
  • persistent truncus arteriosis / MGI
  • situs inversus / MGI
  • abnormal heart atrium morphology / MGI
  • abnormal aortic arch morphology / MGI
  • interrupted aortic arch / MGI
  • right aortic arch / MGI
  • decreased fetal size / MGI
  • abnormal direction of heart looping / MGI
  • abnormal surfactant secretion / MGI
  • abnormal neural fold formation / MGI
  • abnormal heart ventricle morphology / MGI
  • absent adrenal gland / MGI
  • homeostasis/metabolism phenotype / MGI
  • impaired lung alveolus development / MGI
  • atrioventricular valve regurgitation / MGI
  • right atrial isomerism / MGI
  • abnormal inferior vena cava morphology / MGI
  • abnormal heart position or orientation / MGI
  • abnormal cardiac outflow tract development / MGI
  • abnormal spinal cord central canal morphology / MGI
  • abnormal basicranium morphology / MGI
  • ventricular septal defect / MGI
  • atrial septal defect / MGI
  • ostium primum atrial septal defect / MGI
  • common atrium / MGI
  • abnormal heart and great artery attachment / MGI
  • abnormal truncus arteriosus septation / MGI
  • pulmonary artery stenosis / MGI
  • aberrant origin of the right subclavian artery / MGI
  • vascular ring / MGI
  • common atrioventricular valve / MGI
  • iris coloboma / MGI
  • abnormal stomach position or orientation / MGI
  • absent alveolar lamellar bodies / MGI
  • small lung lobe / MGI
  • perinatal lethality, complete penetrance / MGI
  • lethality throughout fetal growth and development, complete penetrance / MGI
  • prenatal lethality, incomplete penetrance / MGI
  • embryonic lethality during organogenesis, incomplete penetrance / MGI
  • increased embryonic neuroepithelium apoptosis / MGI
  • abnormal cardiac neural crest cell morphology / MGI
  • decreased cardiac neural crest cell number / MGI
  • absent cardiac neural crest cells / MGI
  • abnormal tail position or orientation / MGI

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

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