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Dnah5b2b2451Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dnah5b2b2451Clo
Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 2451 Cecilia Lo
MGI ID: MGI:5645238
Gene: Dnah5  Location: Chr15:28203898-28472198 bp, + strand  Genetic Position: Chr15, 10.9 cM
Mutant 2451-002-LA exhibits heterotaxy with levocardia, levogastria, but right sided pancreas and malrotated gut.

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 C to T substitution at coding nucleotide 8146 in exon 49 of the cDNA (c.C8146T, NM_133365). This changes the arginine residue to cysteine at position 2716 of the encoded protein (p.R2716C). (J:175213)
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 structures
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:  147 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotypes: Duplicated inferior vena.

Noncardiovascular phenotype: Right sided pancreas and spleen, malrotated gut.

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 Codes Code Description
190 Heterotaxy Syndrome
2810 Inferior vena cava anomaly
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4407 Intestinal malrotation
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). 2011-15;
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
09/27/2022
MGI 6.21
The Jackson Laboratory