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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)

Show the 9 image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:
Cardiac phenotype: Congenital heart disease associated with heterotaxy such as double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), dextrocardia/mesocardia.
Noncardiac phenotype: dextrogastria, hypoplastic spleen, cystic lung, immotile/slow/dyskinetic cilia

Phenotypic Similarity to Human Syndrome: Heterotaxy, Kartagener's syndrome, Primary ciliary dyskinesia

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
0100 Situs inversus totalis
0110 Dextrocardia
0140 Mesocardia
0190 Heterotaxy Syndrome
0600 Double outlet right ventricle
1300 Ventricular septal defect
1845 Hypertrophic cardiomyopathy
3804 Congenital heart disease
3950 {S,D,D}
3973 {I,L,L}
3988 {A,L,L}
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
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory