Slit2^b2b1200.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Slit2^b2b1200.1Clo
• Name: slit guidance ligand 2; Bench to Bassinet Program (B2B/CVDC) mutation 1200, subline 1, Cecilia Lo
• MGI ID: MGI:5437102
• Gene: Slit2 Location: Chr5:48140480-48465075 bp, + strand Genetic Position: Chr5, 26.05 cM
• Alliance: Slit2^b2b1200.1Clo page

Mutant 1200-003-NA shows dextroversion {S,D,S} with vascular ring

Show the 23 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 details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1200Clo. The molecular lesion is a T to T substitution at nucleotide +6 after coding nucleotide 1808 (c.1808+6T>T, NM_178804) in intron 17, a presumed splicing mutation. (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Slit2 Mutation: 88 strains or lines available

Notes

This mutation was derived from the parent line b2b1200Clo.

Summative Diagnosis:
Mutant Type 1:
Cardiovascular defects: Heterotaxy with congenital heart disease such as dextroversion with hypoplastic right ventricle (RV), double outlet right ventricle (DORV), muscular and membranous ventricular septal defects, aortic arch anomalies including vascular ring
Non-cardiovascular defects: Duplex kidneys with cysts and hydronephrosis

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
0190	Heterotaxy Syndrome
0600	Double outlet right ventricle
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
1821	Hypoplastic right ventricle (subnormal cavity volume)
2704	Aortic arch hypoplasia
2760	Vascular ring
3804	Congenital heart disease
3953	{S,D,S}
4502	Hydronephrosis
4508	Polycystic kidney disease

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: 3 reference(s)