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| Nomenclature |
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Symbol:
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Cep290b2b1454Clo
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Name:
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centrosomal protein 290;
Bench to Bassinet Program (B2B/CVDC), mutation 1454 Cecilia Lo
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MGI ID: |
MGI:5437082 |
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Synonyms: |
Cep290c.T4670A, Checkers |
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Gene:
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Cep290
Location:
Chr10:100488289-100573655 bp, + strand
Genetic Position: Chr10,
51.48 cM
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Mutant 1754-003-NA displays malpositioning of the IVC, aortic arch hypoplasia and malpositiong of the OFT confirmed to be DORV by EFIC imaging
Show the 15 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T-to-A single point mutation at position 4670 of the cDNA (c.T4670A, NM_146009) that is predicted to cause a leucine to stop codon substitution at position 1557 of the encoded protein (p.L1557X). (J:175213)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Summative Diagnosis:
Cardiac phenotype: Congenital heart disease associated with heterotaxy such as doublet outlet right ventricle, atrioventricular septal defect, duplicated inferior vena cava (IVC), and hypoplastic spleen/polysplenia
Noncardiac phenotype: Cystic kidney tubular and glomerular cysts. Open eyes, micrognathia
Phenotypic Similarity to Human Syndrome: Heterotaxy, Polycystic kidney disease
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Analysis Tools
