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| Nomenclature |
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Symbol:
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Dnaic1b2b1526Clo
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Name:
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dynein, axonemal, intermediate chain 1;
Bench to Bassinet Program (B2B/CVDC), mutation 1526 Cecilia Lo
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MGI ID: |
MGI:5317589 |
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Synonyms: |
Spot |
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Gene:
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Dnaic1
Location:
Chr4:41569775-41638158 bp, + strand
Genetic Position: Chr4,
21.75 cM
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Situs inversus totalis indicated by dextrocardia with dextrogastria in 1526-007-LC neonate
Show the 3 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-C single point mutation at position 1565 of the cDNA (c.T1565C, NM_175138) that is predicted to cause a isoleucine to threonine amino acid substitution at position 522 of the encoded protein (p.I522T).
(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 defects: Situs inversus totalis and heterotaxy with congenital heart disease
Non-cardiovascular defects: Immotile tracheal airway cilia
Phenotypic Similarity to Human Syndrome: Kartagener's Syndrome, Primary Ciliary Dyskinesia and Heterotaxy
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Analysis Tools
