About   Help   FAQ
Tll1b2b2476Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Tll1b2b2476Clo
Name: tolloid-like; Bench to Bassinet Program (B2B/CVDC), mutation 2476 Cecilia Lo
MGI ID: MGI:5560905
Gene: Tll1  Location: Chr8:64014931-64206271 bp, - strand  Genetic Position: Chr8, 32.19 cM
Mutant 2476-007-1 (E16.5) is developmentally delayed, exhibits parallel outflow tracts and thin ventricle walls which is diagnosed as DORV and ventricular non-compaction by EFIC imaging

Show the 12 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:    Undefined
 
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 2755 in exon 20 of the cDNA (c.2755T>A, NM_009390). This changes the tryptophan residue to arginine at position 919 of the encoded protein (p.W919R). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Tll1b2b2476Clo, and may be present in stocks carrying this mutation.
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 anatomical structures
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 Tll1 Mutation:  4 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular Phenotype: Overriding aorta/double outlet right ventricle (DORV), muscular ventricular septal defect (VSD), ventricular non-compaction, aortic arch anomalies with incomplete vascular ring.
Noncardiovascular phenotype: growth retarded, abnormal palate, hypoplastic thymus

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
1300 Ventricular septal defect
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
1432 Overriding aortic valve
1802 Excessive myocardial trabeculation or noncompaction
4906 Non-cardiac abnormality

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/13/2021
MGI 6.16
The Jackson Laboratory