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| Nomenclature |
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Symbol:
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Drc1b2b1654Clo
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Name:
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dynein regulatory complex subunit 1;
Bench to Bassinet Program (B2B/CVDC), mutation 1654 Cecilia Lo
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MGI ID: |
MGI:5438062 |
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Synonyms: |
Aardvark |
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Gene:
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Drc1
Location:
Chr5:30341663-30366708 bp, + strand
Genetic Position: Chr5,
16.42 cM
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Mutant 1654-002-MNA displays levocardia with dual hepatic vein
Show the 17 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 A-to-G single point mutation at position 2021 of the cDNA (c.A2021G, NM_001033460) that is predicted to cause a tyrosine to cysteine amino acid substitution at position 674 of the encoded protein (p.Y674C).
(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 Drc1 Mutation:
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0 strains or lines available |
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Notes |
Summative Diagnosis:
Cardiac phenotype: Heterotaxy with complex congenital heart disease such as transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), dual inferior vena cava (IVC), dual hepatic vein, azygous venous connection
Noncardiac phenotype: Immotile/dyskinetic airway cilia
Phenotypic Similarity to Human Syndrome: Heterotaxy, Kartagener's syndrome, Primary ciliary dyskinesia
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Analysis Tools
