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Dock1b2b3190Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dock1b2b3190Clo
Name: dedicator of cytokinesis 1; Bench to Bassinet Program (B2B/CVDC), mutation 3190Cecilia Lo
MGI ID: MGI:5618859
Synonyms: DIctator
Gene: Dock1  Location: Chr7:134670654-135173639 bp, + strand  Genetic Position: Chr7, 79.14 cM
Mutant (E17.5) exhibits malaligned outflow tracts with hypoplastic pulmonary artery (PA) which was diagnosed by ECM histopathology as double outlet right ventricle (DORV) of Tetralogoy of Fallot subtype.

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:    Undefined
 
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 following coding nucleotide 1561 (c.1561+2T>A, NM_001033420) in intron 16. This changes splice donor site T-GT to T-GA (which is assumed to be inactive). (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: 9 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 Dock1 Mutation:  15 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotypes: Persistant truncus arteriosis (PTA), double outlet right ventricle (DORV) with pulmonary atresia (Tetralogy of Fallol DORV subtype), atrioventricular septal defect (AVSD), DORV with subaortic ventricular septal defect (VSD).

Noncardiovascular phenotype: Hydrops, hypoplastic thymus, hydronephrosis, and craniofacial defects including short snout and micrognathia.

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
500 Truncus arteriosus
600 Double outlet right ventricle
1000 Pulmonary atresia congenital
1050 Tetralogy of Fallot
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
4163 Micrognathia
4502 Hydronephrosis
4610 DiGeorge syndrome
4906 Non-cardiac abnormality

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
09/05/2019
MGI 6.14
The Jackson Laboratory