Dock1^b2b3190Clo
Chemically induced Allele Detail

Summary

• Symbol: Dock1^b2b3190Clo
• Name: dedicator of cytokinesis 1; Bench to Bassinet Program (B2B/CVDC), mutation 3190Cecilia Lo
• MGI ID: MGI:5618859
• Synonyms: DIctator
• Gene: Dock1 Location: Chr7:134272416-134775376 bp, + strand Genetic Position: Chr7, 79.14 cM
• Alliance: Dock1^b2b3190Clo page

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 details: This 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)

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

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: 130 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). 2011-09-12
• All: 2 reference(s)