Snx17^b2b1625.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Snx17^b2b1625.1Clo
• Name: sorting nexin 17; Bench to Bassinet Program (B2B/CVDC), mutation 1625, subline 1 Cecilia Lo
• MGI ID: MGI:5489924
• Gene: Snx17 Location: Chr5:31350634-31356244 bp, + strand Genetic Position: Chr5, 17.26 cM
• Alliance: Snx17^b2b1625.1Clo page

Mutant 1625-002-NB displays malpositioning of the great arteries which was confirmed to be overriding aorta by EFIC imaging

Show the 14 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 b2b1625Clo. The molecular lesion is an A to G substituation at coding nucleotide 431 in exon 5 of the cDNA (c.431A>G, NM_153680). This changes the glutamic acid residue to glycine at position 144 of the encoded protein (p.E144G). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Snx17^b2b1625.1Clo, and may be present in stocks carrying this mutation.

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 Snx17 Mutation: 31 strains or lines available

Notes

This mutation is present in a subline of b2b1625Clo.

Summative Diagnosis:
Cardiac phenotype: Double outlet right ventricle (DORV)/overriding aorta (Ao), atrioventricular septal defect (AVSD)
Noncardiac phenotype: Anopthalmia, duplex kidneys

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
1100	Atrioventricular canal (endocardial cushion defect)
1432	Overriding aortic valve
4864	Anophthalmia

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)