Trappc10^b2b2416Clo
Chemically induced Allele Detail

Summary

• Symbol: Trappc10^b2b2416Clo
• Name: trafficking protein particle complex 10; Bench to Bassinet Program (B2B/CVDC) mutation 2416, Cecilia Lo
• MGI ID: MGI:5560902
• Gene: Trappc10 Location: Chr10:78022559-78080475 bp, - strand Genetic Position: Chr10, 39.72 cM
• Alliance: Trappc10^b2b2416Clo page

Mutant 2416-004-NB shows a hypoplastic thymus and thickened ventricular walls which is diagnosed as biventricular hypertrophy by EFIC imaging

Show the 15 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 C substitution at coding nucleotide 1040 in exon 8 of the cDNA (c.1040T>C, NM_001081055). This changes the valine residue to alanine at position 347 of the encoded protein (p.V347A). (J:175213)

Disease models

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 Trappc10 Mutation: 56 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Overriding aorta, atrioventricular (AVSD) or ventricular septal defects (VSD), hypoplastic aorta and pulmonary artery, aortic arch anomaly such as incomplete vascular ring, biventricular hypertrophy
Noncardiovascular phenotype: Holoprosencephaly, anencephaly, severe craniofacial defects with astomia, low-set ears and proboscis, 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
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4332	Anencephaly
4338	Holoprosencephaly
4864	Anophthalmia
7505	Biventricular hypertrophy

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)