About   Help   FAQ
Dync2h1b2b414Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dync2h1b2b414Clo
Name: dynein cytoplasmic 2 heavy chain 1; Bench to Bassinet Program (B2B/CVDC), mutation 414 Cecilia Lo
MGI ID: MGI:5311370
Synonyms: Dync2h1p.V234E, Lucifer
Gene: Dync2h1  Location: Chr9:6928503-7184446 bp, - strand  Genetic Position: Chr9, 2.46 cM
Pulmonary atresia with MAPCAs and duplicated IVC.

Show the 26 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation details
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
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 Dync2h1 Mutation:  4 strains or lines available
Notes
Summative Diagnosis:
Mutant Phenotype 1: Cardiovascular defects: Pulmonary atresia with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), major aortopulmonary collateral arteries (MAPCA), coronary fistula, dual inferior vena cavae (IVC) and single lung lobe. Non-cardiovascular defects: Micrognathia, hypotelorism, duplex kidney, polydactyly/syndactyly/oligodactyly, and tracheoesphageal fistula (TEF).
Mutant Phenotype 2: Kidney agenesis, craniofacial anomalies.

Phenotypic Similarity to Human Syndrome: VACTERL/VATER syndrome, pulmonary atresia with VSD and major aortopulmonary collateral arteries (MAPCA). Short rib-polydactyly syndrome. Jeune asphyxiating thoracic dystrophy.

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
0110 Dextrocardia
1081 Tetralogy of Fallot with pulmonary atresia and mapcas
1120 Complete common atrioventricular canal
1124 Balanced complete atrioventricular canal
1125 Unbalanced complete atrioventricular canal, left dominant
1140 Common atrium
2230 Coronary fistula (arterio-venous or arterio-cameral)
2810 Inferior vena cava anomaly
3100 Congenital coronary anomaly
3804 Congenital heart disease
3986 {A,D,S}
4044 VATERS/VACTERLS Syndrome
4103 Polydactyly
4163 Micrognathia
4170 Hand and/or foot anomaly
4174 Syndactyly
4202 Tracheoesophageal fistula
4232 Airway malformation
4235 Pulmonary malformation
4338 Holoprosencephaly
4503 Agenesis of kidneys
4863 Opthalmic malformation
4874 Mouth malformation

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. MGI Direct Data Submission (B2B/CvDC). 2011-13;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/12/2014
MGI 5.19
The Jackson Laboratory