B6.129P2-Cited2^tm1Bha/BhaH

Status	Available to order
EMMA ID	EM:02569
Citation information	RRID:IMSR_EM:02569 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	B6.129P2-Cited2^tm1Bha/BhaH
Alternative name	Cited2-tm1Bha
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Cited2^tm1Bha
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. A neomycin-resistance gene cassette replaces all Cited2 exons.
Phenotypic information	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.
References	Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator.;Bamforth S D, Bragança J, Eloranta J J, Murdoch J N, Marques F I, Kranc K R, Farza H, Henderson D J, Hurst H C, Bhattacharya S, ;2001;Nature genetics;29;469-74; 11694877
Homozygous fertile	no
Homozygous viable	no
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 males
Breeding at archiving centre	Imported males were backcrossed to C57BL/6J before heterozygous sperm donors were archived.

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

MGI phenotypes (allele matching)

abnormal interventricular septum morphology / MGI
double outlet right ventricle / MGI
abnormal pulmonary trunk morphology / MGI
edema / MGI
postnatal lethality / MGI
right pulmonary isomerism / MGI
dextrocardia / MGI
mesocardia / MGI
small spleen / MGI
abnormal embryo turning / MGI
persistent truncus arteriosis / MGI
situs inversus / MGI
abnormal aortic arch morphology / MGI
interrupted aortic arch / MGI
right aortic arch / MGI
abnormal direction of heart looping / MGI
right atrial isomerism / MGI
abnormal inferior vena cava morphology / MGI
ventricular septal defect / MGI
common atrioventricular valve / MGI
abnormal tail position or orientation / MGI
abnormal heart ventricle morphology / MGI
absent adrenal gland / MGI
abnormal cardiac outflow tract development / MGI
ostium primum atrial septal defect / MGI
common atrium / MGI
vascular ring / MGI
abnormal heart development / MGI
overriding aortic valve / MGI
abnormal kidney development / MGI
exencephaly / MGI
fused dorsal root ganglion / MGI
small dorsal root ganglion / MGI
abnormal cranial ganglia morphology / MGI
abnormal heart atrium morphology / MGI
abnormal heart position or orientation / MGI
atrial septal defect / MGI
aberrant origin of the right subclavian artery / MGI
perinatal lethality, complete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
abnormal cardiac neural crest cell morphology / MGI
decreased cardiac neural crest cell number / MGI
absent cardiac neural crest cells / MGI

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

Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator.;Bamforth S D, Bragança J, Eloranta J J, Murdoch J N, Marques F I, Kranc K R, Farza H, Henderson D J, Hurst H C, Bhattacharya S, ;2001;Nature genetics;29;469-74; 11694877

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B6.129P2-Cited2tm1Bha/BhaH