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Slit3b2b2362.1Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Slit3b2b2362.1Clo
Name: slit guidance ligand 3; Bench to Bassinet Program (B2B/CVDC) mutation 2362, subline 1, Cecilia Lo
MGI ID: MGI:5560156
Gene: Slit3  Location: Chr11:35121456-35708507 bp, + strand  Genetic Position: Chr11, 20.29 cM, cytoband A5
Mutant 2362-004-1 (E16.5) exhibits ectopia cordis, ventricular non-compaction, and gastroschisis with a body wall closure defect

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:    Single point mutation
 
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b2362Clo. The molecular lesion for this subline is attributed to a G to T substitution at coding nucleotide postion 3538 in exon 31 of the cDNA (c.3538G>T, NM_011412). This changes the alanine residue to serine at position 1180 of the expressed protein (p.A1180S). (J:175213)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 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 Slit3 Mutation:  5 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular Phenotype: Double outlet right ventricle (including Taussig-Bing subtype, DORV) with atrioventricular septal defect (AVSD), ventricular septal defects (VSD), and ventricular non-compaction. In one mutant this was accompanied by ectopia cordis.
Noncardiovascular Phenotype (one mutant): Gastroschisis with ectopia cordis, hypoplastic kidneyl with some glomerular cysts

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
0170 Ectopia cordis
0606 DORV + AVSD (AV canal)
0610 DORV, Taussig bing
1300 Ventricular septal defect
1802 Excessive myocardial trabeculation or noncompaction
4414 Gastroschisis

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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory