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Dnah5b2b601Clo
Chemically induced Allele Detail
Summary
Symbol: Dnah5b2b601Clo
Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 601 Cecilia Lo
MGI ID: MGI:5311153
Synonyms: Dnahc5c.438+2T-A
Gene: Dnah5  Location: Chr15:28203898-28472198 bp, + strand  Genetic Position: Chr15, 10.9 cM
Alliance: Dnah5b2b601Clo page
Situs inversus totalis

Show the 10 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 substitution at nucleotide +2 after coding nucleotide 438 (c.438+2T>A, NM_133365) in intron 4. This changes splice donor site G-GT to G-GA (which is assumed to be inactive). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah5b2b601Clo, 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: 4 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 defect: Situs inversus totalis and heterotaxy with abdominal situs ambigous and congenital heart disease: Dextrocardia with double outlet right ventricle (DORV) and atrioventricular septal defect (AVSD).
Non-cardiovascular defect: Immotile airway cilia with outer dynein arm defect.

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
0140 Mesocardia
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
2720 Right aortic arch
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3974 {I,L,I}

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