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| Nomenclature |
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Symbol:
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Bicc1b2b222Clo
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Name:
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bicaudal C homolog 1 (Drosophila);
Bench to Bassinet Program (B2B/CVDC), mutation 222 Cecilia Lo
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MGI ID: |
MGI:5285079 |
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Synonyms: |
Bicc1c.606+2TC>, Destro |
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Gene:
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Bicc1
Location:
Chr10:70922832-71159700 bp, - strand
Genetic Position: Chr10,
36.75 cM
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Situs inversus totalis with mirror image dextrocardia {I,L,I}
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-C substitution (c.606+2T>C) in an intron near a splice site, which is predicted to result in the deletion of 17 amino acids in the encoded protein (p.V185_R202del). (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
Cardiovascular defects: Situs inversus totalis, heterotaxy with congenital heart disease: Double outlet right ventricle (DORV), transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), and interrupted aortic arch (IAA)
Non-cardiovascular defects: polycystic kidney disease, pancreatic cyst, choleduchal cyst, gonadal cyst
Phenotypic Similarity to Human Syndrome: Polycystic kidney disease, Heterotaxy
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Analysis Tools
