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Chemically induced Allele Detail
Symbol: 2410089E03Rikb2b012Clo
Name: RIKEN cDNA 2410089E03 gene; Bench to Bassinet Program (B2B/CVDC), mutation 012 Cecilia Lo
MGI ID: MGI:5297398
Synonyms: Heart Under Glass, Hug, Jbts17Hug, Jbtshug
Gene: 2410089E03Rik  Location: Chr15:8169106-8271158 bp, + strand  Genetic Position: Chr15, 3.82 cM, cytoband A2
Mutant 012-029-NB has RAA, DORV, and pulmonary stenosis

Show the 64 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-c single point mutation at position 757 of the cDNA (c.T757C, NM_001162906) that is predicted to cause an amino acid substitution at position 253 of the encoded protein (p.S253P). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, 2410089E03Rikb2b012Clo, and may be present in stocks carrying this mutation.
View phenotypes for all genotypes (concatenated display).
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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 2410089E03Rik Mutation:  52 strains or lines available
Summative Diagnosis:
Cardiovascular defects: Double outlet right ventricle (DORV) {S,D,D}, pulmonary atresia/hypolastic pulmonary artery (PA), atrioventricular septal defect (AVSD), right aortic arch (RAA), and abnormal coronary vein
Non-cardiovascular defects: Cleft lip and palate, polydactyly, sternal bone malalignment and hypoplasia, hypoplastic lungs, micrognathia, duplex and cystic kidney

Phenotypic Similarity to Human Syndrome: Joubert Syndrome

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
0600 Double outlet right ventricle
0602 DORV, ventricular defect committed to aorta
1000 Pulmonary atresia congenital
1100 Atrioventricular canal (endocardial cushion defect)
2720 Right aortic arch
2966 Hypoplastic main pulmonary artery
3804 Congenital heart disease
3950 {S,D,D}
4100 Skeletal, skin, muscle anomaly
4103 Polydactyly
4163 Micrognathia
4401 Cleft palate and cleft lip
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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.04
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