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| Nomenclature |
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Symbol:
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Dnahc5b2b1537Clo
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Name:
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dynein, axonemal, heavy chain 5;
Bench to Bassinet Program (B2B/CVDC), mutation 1537 Cecilia Lo
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MGI ID: |
MGI:5433326 |
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Synonyms: |
T-Rex |
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Gene:
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Dnahc5
Location:
Chr15:28203752-28472045 bp, + strand
Genetic Position: Chr15,
10.9 cM
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Mutant 1537-002-LA displays dextrocardia with mirror symmetric lung and liver lobation
Show the 12 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 a splice junction that is predicted to cause a truncation of the encoded protein (splice-10). (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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Dnahc5 Mutation:
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10 strains or lines available |
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Notes |
Summative Diagnosis:
Cardiac phenotype: Dextrocardia associated with situs inversus totalis and heterotaxy with dual inferior vena cava (IVC)
Noncardiac phenotype: Immotile airway cilia
Phenotypic Similarity to Human Syndrome: Kartagener's Syndrome, Heterotaxy, Primary Ciliary Dyskinesia
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Analysis Tools
