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| Nomenclature |
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Symbol:
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Dnah11b2b1775Clo
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Name:
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dynein, axonemal, heavy chain 11;
Bench to Bassinet Program (B2B/CVDC), mutation 1775 Cecilia Lo
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MGI ID: |
MGI:5446158 |
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Synonyms: |
Blindfold, Dnahc11c.6489+2T |
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Gene:
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Dnah11
Location:
Chr12:117877982-118199043 bp, - strand
Genetic Position: Chr12,
63.25 cM
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Mutant 1775-005-LA displays dextrocardia, inverted lung lobe, malrotation of intestines
Show the 13 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: | |
Insertion |
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Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an insertion of two T bases at position 6489 of the cDNA (c.6489+2T, NM_010060) that is predicted to cause a frameshift at position 2163 of the encoded protein (p.K2163fs*). (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 Dnah11 Mutation:
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9 strains or lines available |
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Notes |
Summative Diagnosis:
Cardiovascular phenotypes: Dextrocardia associated with heterotaxy, duplicated IVC, inverted hemiazygous connection.
Non-cardiac phenotypes: Gut malroation, hypoplastic spleen, possible biliary obstruction. Dyskinetic and hyperkinetic airway cilia
Phenotypic Similarity to Human Syndrome: Heterotaxy, Primary Ciliary Dyskinesia
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Analysis Tools
