Slit3<b2b2362.1Clo> Chemically induced Allele Detail MGI Mouse (MGI:5560156)

Slit3^b2b2362.1Clo
Chemically induced Allele Detail

Summary

Symbol:	Slit3^b2b2362.1Clo
Name:	slit guidance ligand 3; Bench to Bassinet Program (B2B/CVDC) mutation 2362, subline 1, Cecilia Lo
MGI ID:	MGI:5560156
Gene:	Slit3 Location: Chr11:35012283-35599334 bp, + strand Genetic Position: Chr11, 20.29 cM, cytoband A5
Alliance:	Slit3^b2b2362.1Clo page

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 details: This 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

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

2 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 Slit3 Mutation:	81 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). 2011-09-12;
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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