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| Nomenclature |
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Symbol:
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Dnahc5b2b601Clo
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Name:
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dynein, axonemal, heavy chain 5;
Bench to Bassinet Program (B2B/CVDC), mutation 601 Cecilia Lo
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MGI ID: |
MGI:5311153 |
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Synonyms: |
Dnahc5c.438+2T-A |
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Gene:
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Dnahc5
Location:
Chr15:28203752-28472045 bp, + strand
Genetic Position: Chr15,
10.9 cM
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Situs inversus totalis
Show the 10 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 splice site mutation; a T to A substitution at nucleotide +2 of the intron in the coding DNA positioned between cDNA nucleotides 438 and 439. (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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Notes |
Summative Diagnosis:
Cardiovascular defect: Situs inversus totalis and heterotaxy with abdominal situs ambigous and congenital heart disease: Dextrocardia with double outlet right ventricle (DORV) and atrioventricular septal defect (AVSD).
Non-cardiovascular defect: Immotile airway cilia with outer dynein arm defect.
Phenotypic Similarity to Human Syndrome: Heterotaxy, Primary Ciliary Dyskinesia, Kartagener syndrome
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Analysis Tools
