About   Help   FAQ
Adamts6b2b1879.1Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Adamts6b2b1879.1Clo
Name: a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6; Bench to Bassinet Program (B2B/CVDC), mutation 1879.1 Cecilia Lo
MGI ID: MGI:5476179
Gene: Adamts6  Location: Chr13:104287873-104494763 bp, + strand  Genetic Position: Chr13, 56.42 cM
Mutant 1879-002-NA shows abnormal placement of the outflow with malformed pulmonary trunk and is diagnosed with DORV by EFIC imaging

Show the 23 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:    Single point mutation
 
Mutation details
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
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 Adamts6 Mutation:  5 strains or lines available
Notes
This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1879Clo.
Summative Diagnosis:
Cardiovascular Phenotype: Overriding aorta/Double outlet right ventricle (DORV) with ventricular septal defects (subaortic, perimembranous, and muscular), atrioventricular septal defects (AVSD), and biventricular hypertrophy
Noncardiovascular Phenotype: Abnormal flexure of the hindlimbs, hydrops, midline fusion defect of the sternal vertebra, hypoplastic thymus, short snout, and cleft palate

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
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
1432 Overriding aortic valve
4100 Skeletal, skin, muscle anomaly
4876 Cleft palate
4906 Non-cardiac abnormality
7505 Biventricular hypertrophy

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
08/26/2014
MGI 5.19
The Jackson Laboratory