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Dnah5b2b1154Clo
Chemically induced Allele Detail
Summary
Symbol: Dnah5b2b1154Clo
Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 1154 Cecilia Lo
MGI ID: MGI:5311386
Gene: Dnah5  Location: Chr15:28203898-28472198 bp, + strand  Genetic Position: Chr15, 10.9 cM
Alliance: Dnah5b2b1154Clo page
Mutant 1154-007-1 (E15.5) exhibits parallel outflow tracts which is diagnosed as DORV by EFIC imaging

Show the 14 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 C to A substitution at coding nucleotide 2755 in exon 19 of the cDNA (c.2755C>A, NM_133365). This changes the histidine residue to asparagine at position 919 of the encoded protein (p.H919N). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah5b2b1154Clo, 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: 5 anatomical structure(s)
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:  252 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotype: Situs inversus totalis and heterotaxy with congenital heart disease including dextrocardia, double outlet right ventricle (DORV), atrioventricular septal defects (AVSD), and right atrial isomerism (RAI)
Noncardiovascular phenotype: Situs inversus totalis and abnormal thoracic and abdominal organ situs anomalies associated with heterotaxy, such as dextrogastria, left liver isomerism, left lung isomerism, and malaligned sternal vertebra. Airway cilia were immotile

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
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3974 {I,L,I}
4100 Skeletal, skin, muscle anomaly
4239 Left bronchial isomerism
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
11/12/2024
MGI 6.24
The Jackson Laboratory