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Dnah5b2b1134Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dnah5b2b1134Clo
Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 1134 Cecilia Lo
MGI ID: MGI:5311385
Synonyms: Dnahc5c.G482T, Razzle
Gene: Dnah5  Location: Chr15:28203752-28472045 bp, + strand  Genetic Position: Chr15, 10.9 cM
Heterotaxy in newborn mutant 1134-007-MLC is indicated by dextrocardia, lung lobation inversion, left liver isomerism and dextrogastria

Show the 10 image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dnah5 Mutation:  11 strains or lines available
Notes
Summative Diagnosis:
Cardioavascular Defects: Heterotaxy indicated by dextrocradia and dextrogastria with congenital heart disease and situs inversus totalis
Non-cardiovascular defects: Immotile airway cilia

Phenotypic Similarity to Human Syndrome: Heterotaxy, Kartagener's Syndrome, Primary Ciliary Dyskinesia

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
0100 Situs inversus totalis
0110 Dextrocardia
0190 Heterotaxy syndrome
3804 Congenital heart disease
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. MGI Direct Data Submission (B2B/CvDC). 2011-13;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory