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Allele : Dock1<b2b3190Clo> dedicator of cytokinesis 1; Bench to Bassinet Program (B2B/CVDC), mutation 3190Cecilia Lo
Primary Identifier  MGI:5618859 Allele Type  Chemically induced (ENU)
Gene  Dock1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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).
  • mutations:
  • Undefined
  • synonyms:
  • DIctator,
  • DIctator
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories





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