Tbc1d32^b2b2596Clo
Chemically induced Allele Detail

Summary

• Symbol: Tbc1d32^b2b2596Clo
• Name: TBC1 domain family, member 32; Bench to Bassinet Program (B2B/CVDC), mutation 2596 Cecilia Lo
• MGI ID: MGI:5560497
• Gene: Tbc1d32 Location: Chr10:55890389-56104785 bp, - strand Genetic Position: Chr10, 28.45 cM
• Alliance: Tbc1d32^b2b2596Clo page

Mutant 2596-005-1 (E15.5) shows pulmonary stenosis, enlarged aorta, which is diagnosed as PTA by EFIC imaging, left lung isomerism (1R/1L), and hypoplastic lungs

Show the 8 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: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to A substitution at coding nucleotide 3096 in exon 27 of the cDNA (c.3096C>A, NM_001033385). This changes the tyrosine residue to a translation stop at position 1032 of the encoded protein (p.Y1032*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Tbc1d32^b2b2596Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

14 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 Tbc1d32 Mutation: 58 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular Phenotype (one mutant): PTA (Type A1), overriding aorta, atrioventricular septal defect (AVSD), dual inferior vena cava (IVC), and right atrial isomerism
Noncardiovascular Phenotype: Excencephaly, craniofacial defect with cleft lip/palate and failure in fusion of the frontonasal prominence, tracheoesophogeal fistula, hypoplastic lungs, eye defects such as anopthalmia and microphthalmia, polydactyly, cystic/duplex kidneys

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
0500	Truncus arteriosus
0510	Truncus arteriosus type i
1100	Atrioventricular canal (endocardial cushion defect)
1432	Overriding aortic valve
2810	Inferior vena cava anomaly
4103	Polydactyly
4134	Skull anomaly, congenital
4163	Micrognathia
4170	Hand and/or foot anomaly
4202	Tracheoesophageal fistula
4401	Cleft palate and cleft lip
4864	Anophthalmia
4875	Cleft lip
4876	Cleft palate
4877	Microphthalmia
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: 3 reference(s)