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Chemically induced Allele Detail
Symbol: Tbc1d32b2b2284Clo
Name: TBC1 domain family, member 32; Bench to Bassinet Program (B2B/CVDC), mutation 2284 Cecilia Lo
MGI ID: MGI:5491268
Synonyms: Walter
Gene: Tbc1d32  Location: Chr10:55890389-56104785 bp, - strand  Genetic Position: Chr10, 28.45 cM
Mutant 2284-002-3 (E15.5) presents with globular heart exhibiting left pulmonary isomerism and possible single outflow tract indicative of persistent truncus arteriosus (PTA), which was confirmed by EFIC histology

Show the 47 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at nucleotide +2 after coding nucleotide 1071 (c.1071+2T>A, NM_001033385) in intron 9. This changes splice donor site G-GT to G-GA (which is assumed to be inactive). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Tbc1d32b2b2284Clo, and may be present in stocks carrying this mutation.
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 18 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 Tbc1d32 Mutation:  42 strains or lines available
Summative Diagnosis:
Cardiovascular Phenotype: Heterotaxy and complex congenital heart disease including persistent truncus arteriosus (PTA), double outlet right ventricle (DORV), hypoplastic pulmonary artery, premature closure of the ductus arteriosus/ductus aplasia, atrioventricular septal defect (AVSD), mesocardia, right atrial isomerism, left atrial isomerism, aortic arch anomalies including right aortic arch (RAA) and vascular ring
Noncardiovascular Phenotype: Anophthalmia, facial cleft and cleft lip, short snout, narrow snout, preaxial digit duplication, tracheoesophageal fistula (TEF), dilated esophagus, hypoplastic spleen, cystic kidneys, and situs anomalies including left lung isomerism, dextrogastria, and midline inferior vena cava (IVC)

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
0140 Mesocardia
0190 Heterotaxy syndrome
0500 Truncus arteriosus
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
2700 Abnormal aortic arch
2720 Right aortic arch
2760 Vascular ring
2810 Inferior vena cava anomaly
3804 Congenital heart disease
4103 Polydactyly
4202 Tracheoesophageal fistula
4239 Left bronchial isomerism
4401 Cleft palate and cleft lip
4864 Anophthalmia
4875 Cleft lip
4876 Cleft palate
4906 Non-cardiac abnormality

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:  3 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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MGI 6.21
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