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Trappc10b2b2416Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Trappc10b2b2416Clo
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
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 detailsThis 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 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 Trappc10 Mutation:  38 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). 2011-15;
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)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory