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| Nomenclature |
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Symbol:
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Ccdc39b2b1304Clo
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Name:
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coiled-coil domain containing 39;
Bench to Bassinet Program (B2B/CvDC), mutation 1304 Cecilia Lo
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MGI ID: |
MGI:5316786 |
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Gene:
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Ccdc39
Location:
Chr3:33812362-33844310 bp, - strand
Genetic Position: Chr3,
16.32 cM
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Complete mirror-image organ situs in situs inversus totalis mutant
Show the 4 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 position 2 of the cDNA (c.T2A, NM_026222) that is predicted to cause an methionine to lysine amino acid substitution at position 1 of the encoded protein (p.M1K).
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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:
Cardiovascular defects: Dextrocardia seen as part of situs inversus totalis.
Non-cardiovascular defects: Kidney defects with cysts and hydronephrosis, immotile tracheal airway cilia.
Phenotypic Similarity to Human Syndrome: Kartagener syndrome, Primary ciliary dyskinesia
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Analysis Tools
