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| Nomenclature |
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Symbol:
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Dnah5b2b1003Clo
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Name:
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dynein, axonemal, heavy chain 5;
Bench to Bassinet Program (B2B/CVDC), mutation 1003 Cecilia Lo
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MGI ID: |
MGI:5297426 |
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Synonyms: |
Dnahc5c.T5503C |
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Gene:
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Dnah5
Location:
Chr15:28203752-28472045 bp, + strand
Genetic Position: Chr15,
10.9 cM
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Situs Inversus Totalis
Show the 8 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 point mutation at position 5503 of the cDNA. (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:
Laterality defects: Situs inversus totalis and heterotaxy.
Non-cardiovascular defects: Immotile airway cilia and kidney abnormalities.
Phenotypic Similarity to Human Syndrome: Primary Ciliary Dyskinesia, Kartagener's syndrome, Heterotaxy
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