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| Nomenclature |
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Symbol:
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Dnahc5hlb612
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Name:
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dynein, axonemal, heavy chain 5;
heart, lung and blood 612
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MGI ID: |
MGI:3722326 |
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Synonyms: |
Dnahc5del593, Mdnah5del267-859 |
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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 anomalies in Dnahc5hlb612/Dnahc5hlb612 mice
Show the 6 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: | |
Intragenic deletion |
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Mutation details: 29,755 base pairs containing exons 7 through 17 were deleted by ENU mutgenesis. This resulted in a 593 amino acid deletion in the protein and deletion of the DHC_N1 domain. (J:130755)
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Inheritance: | |
Recessive |
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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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| References |
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Original: |
J:130755
Tan SY et al.,
"Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia."
J Clin Invest 2007 Dec;117(12):3742-52
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All: |
3 reference(s)
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Analysis Tools
