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| Nomenclature |
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Symbol:
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Dnaic1b2b284Clo
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Name:
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dynein, axonemal, intermediate chain 1;
Bench to Bassinet Program (B2B/CVDC), mutation 284 Cecilia Lo
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MGI ID: |
MGI:5285080 |
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Synonyms: |
Bishu, Dnaic1IVS4+1G-A |
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Gene:
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Dnaic1
Location:
Chr4:41569775-41638158 bp, + strand
Genetic Position: Chr4,
21.75 cM
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Dextrocardia with parallel outflow tracts suggestive of DORV (confirmed by EFIC imaging).
Show the 19 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 G-to-A splice site mutation in intron 1 (c.240+1G>A) and is predicted to result in the insertion of novel amino acids and the introduction of a premature stop codon (p*76Argext*15). (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: Laterality defects with situs inversus totalis, heterotaxy and congenital heart disease: Atrioventricular setpal defect (AVSD), transposition of the great arteries (TGA), and double outlet right ventricle (DORV).
Non-cardiovascular defects: Tracheal airway cilia immotile, but very few cilia are observed to have twitching motion.
Phenotypic Similarity to Human Syndrome: Primary ciliary dyskinesia
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Analysis Tools
