Trappc10^b2b2613Clo
Chemically induced Allele Detail

Summary

• Symbol: Trappc10^b2b2613Clo
• 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: Trappc10^b2b2613Clo 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 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 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)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Trappc10 Mutation: 56 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)