About   Help   FAQ
Armc4b2b227.1Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Armc4b2b227.1Clo
Name: armadillo repeat containing 4; Bench to Bassinet Program (B2B/CVDC), mutation 227, subline 1 Cecilia Lo
MGI ID: MGI:5437099
Gene: Armc4  Location: Chr18:7088233-7297901 bp, - strand  Genetic Position: Chr18, 4.53 cM, cytoband A1
Mutant 227-002-NC exhibits dextrocardia with duplicated inferior vena cava (IVC) and parallel outflow tracts which is diagnosed as DORV by EFIC imaging

Show the 17 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 Armc4 Mutation:  4 strains or lines available
Notes
This mutation was derived from the parent line b2b227Clo.

Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Dextrocardia/mesocardia and congenital heart disease associated with heterotaxy, such as double outlet right ventricle (DORV), atrioventricular (AVSD) and ventricular septal defects (VSD), right aortic arch (RAA), right atrial isomerism (RAI), and dual inferior vena cava (IVC)
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, hypoplastic spleen, inverted liver lobation, and malaligned sternal vertebra. Also observed were cystic lungs and immotile/slow/dyskinetic airway cilia

Phenotypic Similarity to Human Syndrome:
Mutant Type 1: Heterotaxy, Primary Ciliary Dyskinesia (PCD)

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
0140 Mesocardia
0190 Heterotaxy Syndrome
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1320 Ventricular septal defect, muscular
2700 Abnormal aortic arch
2720 Right aortic arch
2810 Inferior vena cava anomaly
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4200 Respiratory anomaly

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