Tll1^b2b2476Clo
Chemically induced Allele Detail

Summary

• Symbol: Tll1^b2b2476Clo
• Name: tolloid-like; Bench to Bassinet Program (B2B/CVDC), mutation 2476 Cecilia Lo
• MGI ID: MGI:5560905
• Gene: Tll1 Location: Chr8:64467965-64659305 bp, - strand Genetic Position: Chr8, 32.19 cM
• Alliance: Tll1^b2b2476Clo page

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 details: This 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, Tll1^b2b2476Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 70 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). 2011-09-12
• All: 2 reference(s)