Smarca4^b2b692Clo
Chemically induced Allele Detail

Summary

• Symbol: Smarca4^b2b692Clo
• Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; Bench to Bassinet Program (B2B/CvDC), mutation 692 Cecilia Lo
• MGI ID: MGI:5316781
• Gene: Smarca4 Location: Chr9:21527465-21615526 bp, + strand Genetic Position: Chr9, 7.84 cM
• Alliance: Smarca4^b2b692Clo page

Malpositioning of the outflow tract in mutant 692-002-1 (E16.5)

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. The molecular lesion is a C to T substitution at coding nucleotide 1249 in exon 8 of the cDNA (c.1249C>T, NM_011417). This changes the arginine residue to cysteine at position 417 of the encoded protein (p.R417C). Additional incidental mutations were detected in sequencing for the causative mutation, Smarca4^b2b692Clo, and may be present in stocks carrying this mutation.

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 Smarca4 Mutation: 110 strains or lines available

Notes

Summative Diagnosis:
Phenotype 1: Cardiovascular defects: Double outlet right ventricle (DORV)/overriding aorta, perimembranous (pmVSD), muscular ventricular septal defect (mVSD)
Phenotype 2: Cardiovascular defects: Coronary artery fistula to right ventricle (RV)

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
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
1432	Overriding aortic valve
2233	Coronary-cameral fistula to right ventricle

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)