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| Nomenclature |
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Symbol:
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Ccdc39b2b1735Clo
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Name:
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coiled-coil domain containing 39;
Bench to Bassinet Program (B2B/CVDC), mutation 1735 Cecilia Lo
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MGI ID: |
MGI:5438066 |
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Synonyms: |
Gonzo |
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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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Mutant 1735-002-LA displays situs inversus totalis indicated by dextrocardia, reverse lung and liver lobation, and dextrogastria
Show the 11 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 substitution at nucleotide +2 of an intron following nucleotide 357 (c.357+2T>A, NM_026222), a presumed splicing mutation. (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 Ccdc39 Mutation:
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2 strains or lines available |
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Notes |
Summative Diagnosis:
Cardiac phenotype: Complex congenital heart disease (CHD) associated with heterotaxy such as double outlet right ventricle (DORV) with atrioventricular septal defect (AVSD), dextrocardia associated with situs inversus totalis
Non-Cardiac phenotype: Immotile airway cilia
Phenotypic Similarity to Human Syndrome: Heterotaxy, Primary Ciliary Dyskinesia, Kartagener's syndrome
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Analysis Tools
