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Trappc10b2b2613Clo
Chemically induced Allele Detail
Summary
Symbol: Trappc10b2b2613Clo
Name: trafficking protein particle complex 10; Bench to Bassinet Program (B2B/CVDC), mutation 2613 Cecilia Lo
MGI ID: MGI:5615094
Gene: Trappc10  Location: Chr10:78022559-78080475 bp, - strand  Genetic Position: Chr10, 39.72 cM
Alliance: Trappc10b2b2613Clo page
Mutant (E15.5) exhibits a hypoplastic thymus.

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 C substitution at coding nucleotide 2329 in exon 15 of the cDNA (c.2329T>C, NM_001081055). This changes the tyrosine residue to histidine at position 777 of the encoded protein (p.Y777H). (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: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Trappc10 Mutation:  38 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotypes: Atrioventricular septal defect (AVSD), muscular ventricular septal defect (mVSD), and ventricular myocardial non-compaction

Noncardiovascular phenotype: Micrognathia, cleft palate, micropthalmia, and 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 Codes Code Description
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1320 Ventricular septal defect, muscular
1802 Excessive myocardial trabeculation or noncompaction
4163 Micrognathia
4609 Velocardiofacial syndrome
4876 Cleft palate
4877 Microphthalmia

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)

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
01/31/2023
MGI 6.22
The Jackson Laboratory