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| Nomenclature |
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Symbol:
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Dync2h1b2b414Clo
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Name:
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dynein cytoplasmic 2 heavy chain 1;
Bench to Bassinet Program (B2B/CVDC), mutation 414 Cecilia Lo
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MGI ID: |
MGI:5311370 |
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Synonyms: |
Dync2h1p.V234E, Lucifer |
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Gene:
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Dync2h1
Location:
Chr9:6928503-7184446 bp, - strand
Genetic Position: Chr9,
2.46 cM
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Pulmonary atresia with MAPCAs and duplicated IVC.
Show the 26 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 701 of the cDNA (c.T701A). This change is predicted to result in a valine to glutamate change at position 234 of the encoded protein (p.V234E). (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:
Mutant Phenotype 1: Cardiovascular defects: Pulmonary atresia with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), major aortopulmonary collateral arteries (MAPCA), coronary fistula, dual inferior vena cavae (IVC) and single lung lobe. Non-cardiovascular defects: Micrognathia, hypotelorism, duplex kidney, polydactyly/syndactyly/oligodactyly, and tracheoesphageal fistula (TEF).
Mutant Phenotype 2: Kidney agenesis, craniofacial anomalies.
Phenotypic Similarity to Human Syndrome: VACTERL/VATER syndrome, pulmonary atresia with VSD and major aortopulmonary collateral arteries (MAPCA). Short rib-polydactyly syndrome. Jeune asphyxiating thoracic dystrophy.
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Analysis Tools
