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Phenotype Images associated with this Allele
Nomenclature
Symbol: Cep290b2b1454Clo
Name: centrosomal protein 290; Bench to Bassinet Program (B2B/CVDC), mutation 1454 Cecilia Lo
MGI ID: MGI:5437082
Synonyms: Cep290c.T4670A, Checkers
Images for
Allele
Click images for details
Image Caption Genotypes involving this allele
Allelic Composition Genetic Background
Mutant 1754-003-NA displays malpositioning of the IVC, aortic arch hypoplasia and malpositiong of the OFT confirmed to be DORV by EFIC imagingCep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Mutant 1454-003-NA displays polyspleniaCep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Mutant 1454-003-NA displays bilateral duplex kidneys with hydropnephrosisCep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Mutant 1454-003-NA shows micrognathia and open eyesCep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
EFIC SummaryCep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Serial 2D EFIC image stack of 1454-003-NA in the coronal plane reveals heterotaxy, DORV, AVSD, left IVC, bilateral coronary veins {A,D,D}, and coronary artery fistula (LCA to LV)
Click thumbnail to play movie.		Cep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Color flow spectral Doppler imaging of mutant 1454-003-NA in the transverse view shows AVSDCep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Color flow spectral Doppler imaging of mutant 1454-003-NA in the frontal view shows pulmonary artery and overriding Ao suggesting DORV with subaortic VSD.Cep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Color flow spectral Doppler imaging of mutant 1454-003-NA in the transverse view shows regurgitation of common AV valve with muscular VSDCep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Mutant 1454-002-LA displays right aortic arch and dual IVCCep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Mutant 1454-002-LA displays cystic kidneys confirmed by histologyCep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
EFIC SummaryCep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Serial 2D EFIC image stack in the coronal plane of 1454-002-LA reveals AVSD and right aortic arch
Click thumbnail to play movie.		Cep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Mutant 1454-002-LA displays kidney tubular and glomerular cystsCep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Videomicroscopy of 1154-002-LA mutant airway reveals motile cilia
Click thumbnail to play movie.		Cep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290b2b1454Clo
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory