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Rsg1b2b2804Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Rsg1b2b2804Clo
Name: REM2 and RAB-like small GTPase 1; Bench to Bassinet Program (B2B/CVDC), mutation 2804 Cecilia Lo
MGI ID: MGI:5616147
Gene: Rsg1  Location: Chr4:141213956-141226756 bp, + strand  Genetic Position: Chr4, 73.47 cM
Mutant (E14.5) shows persistent truncus arteriosus (PTA), and dual inferior vena cava (IVC), which was confirmed by ECM imaging.

Show the 9 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 single point mutation at position 140774490, exon 5, nucleotide 428 of the cDNA that is predicted to convert F-to-S at position 143 of the encoded protein (exon5:c.T428C:p.F143S, NM_001081174 ).The mutant phenotype is attributed to a mutation in the Rsg1 gene. (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: 8 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 Rsg1 Mutation:  13 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotypes: Persistant truncus arteriosus (PTA), atrial ventricular septal defect (AVSD), common atrium, abnormal pulmonary artery branching, and duplicated inferior vena cava (IVC).

Noncardiovascular phenotype: Preaxial digit duplication, central polydactyly, micrognathia, and eye defects including anophthalmia and micophthalmia.

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)
1140 Common atrium
2810 Inferior vena cava anomaly
4103 Polydactyly
4163 Micrognathia
4170 Hand and/or foot anomaly
4864 Anophthalmia
4877 Microphthalmia
4906 Non-cardiac abnormality
500 Truncus arteriosus

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). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/08/2018
MGI 6.12
The Jackson Laboratory