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| Nomenclature |
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Symbol:
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Dnahc11b2b1727Clo
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Name:
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dynein, axonemal, heavy chain 11;
Bench to Bassinet Program (B2B/CVDC), mutation 1727 Cecilia Lo
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MGI ID: |
MGI:5437727 |
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Synonyms: |
Mickey |
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Gene:
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Dnahc11
Location:
Chr12:117877982-118199043 bp, - strand
Genetic Position: Chr12,
63.25 cM
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Mutant 1727-002-LA displays heterotaxy indicated by dextrocardia with lung lobation and levogastria
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 causitive molecular lesion for the cardiovascular phenotypes is a mutation in the Dnahc11 gene. (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 Dnahc11 Mutation:
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9 strains or lines available |
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Notes |
Summative Diagnosis:
Cardiac defects: Complex congenital heart disease associated with heterotaxy such as double outlet right ventricle (DORV) with subaortic ventricular septal defect, atrioventricular septal defect (AVSD), hypoplastic/abnormal spleen
Noncardiac defects: Immotile/hyperkinetic/dyskinetic respiratory airway cilia and hydronephrosis
Phenotypic Similarity to Human Syndrome: Primary ciliary dyskinesia, Heterotaxy, Kartagener's syndrome
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