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Dnah5b2b2395Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dnah5b2b2395Clo
Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 2395 Cecilia Lo
MGI ID: MGI:5552945
Synonyms: Peaches
Gene: Dnah5  Location: Chr15:28203752-28472052 bp, + strand  Genetic Position: Chr15, 10.9 cM
Mutant 2395-006-LB presents with heterotaxy and dextrocardia with levogastria

Show the 18 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6
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 7398 (c.7398+2T>A, NM_133365) in intron 44. 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, Dnah5b2b2395Clo, 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: 11 anatomical structures
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:
Heterotaxy including Situs inversus totalis
Cardiovascular Phenotype: Dextrocardia and and complex congenital heart defects associated with heterotaxy, including anomalous systemic venous return, atrioventricular septal defect (AVSD), right atrial isomerism (RAI), biventricular hypertrophy, and hypoplastic pulmonary artery. Also observed are mutants with situs inversus totatlis without congenital heart defects
Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as left lung isomerism, dextrogastria/levogastria, and dual inferior vena cava (IVC). A few mutants exhibited malaligned sternal vertebra, immotile airway cilia and craniofacial anomalies including micrognathia, cleft palate, duplex kidneys, and short snout

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
1100 Atrioventricular canal (endocardial cushion defect)
2810 Inferior vena cava anomaly
2966 Hypoplastic main pulmonary artery
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3974 {I,L,I}
3988 {A,L,L}
4100 Skeletal, skin, muscle anomaly
4163 Micrognathia
4200 Respiratory anomaly
4239 Left bronchial isomerism
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4876 Cleft palate
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
7505 Biventricular hypertrophy

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
04/06/2021
MGI 6.16
The Jackson Laboratory