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Dnah5b2b1565Clo
Chemically induced Allele Detail
Summary
Symbol: Dnah5b2b1565Clo
Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 1565 Cecilia Lo
MGI ID: MGI:5430344
Synonyms: Dnahc5c.T13210A, Sleepy
Gene: Dnah5  Location: Chr15:28203898-28472198 bp, + strand  Genetic Position: Chr15, 10.9 cM
Alliance: Dnah5b2b1565Clo page
Mutant 1565-004-NA displays dextrocardia with right aortic arch and normal relative great artery positioning

Show the 7 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis 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 13210 of the cDNA (c.T13210A, NM_133365) that is predicted to cause a serine to threonine amino acid substitution at position 4404 of the encoded protein (p.S4404T). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah5b2b1565Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Dnah5 Mutation:  252 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotype: Laterality defects associated with situs inversus totalis
Noncardiovascular phenotype: Situs inversus totalis with immotile airway cilia

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
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 (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory