About   Help   FAQ
Tmem67b2b1163.1Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Tmem67b2b1163.1Clo
Name: transmembrane protein 67; Bench to Bassinet Program (B2B/CVDC), subline 1163.1 Cecilia Lo
MGI ID: MGI:5433409
Gene: Tmem67  Location: Chr4:12039363-12090020 bp, - strand  Genetic Position: Chr4, 5.56 cM
Mutant 1163-006-NA displays malpositioned heart with interrupted aorta and DORV (confirmed by EFIC imaging)

Show the 6 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).
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 Tmem67 Mutation:  7 strains or lines available
Notes
This mutation was derived from the parent line b2b1163Clo.

Summative Diagnosis:
Cardiac defects: Congenital heart disease associated with heterotaxy such as double outlet right ventricle (DORV) with interrupted aortic arch, atrioventricular septal defect (AVSD), and hypoplastic right ventricle (RV)
Noncardiac defects: Highly cystic kidneys with tubule cysts

Phenotypic Similarity to Human Syndrome: Heterotaxy and Polycystic kidney disease

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
1100 Atrioventricular canal (endocardial cushion defect)
1821 Hypoplastic right ventricle (subnormal cavity volume)
0190 Heterotaxy Syndrome
3804 Congenital heart disease
3950 {S,D,D}
4508 Polycystic kidney disease
0600 Double outlet right ventricle

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