Smarca4^b2b508.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Smarca4^b2b508.1Clo
• Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; Bench to Bassinet Program (B2B/CVDC), mutation 508, subline 1 Cecilia Lo
• MGI ID: MGI:5313991
• Gene: Smarca4 Location: Chr9:21527465-21615526 bp, + strand Genetic Position: Chr9, 7.84 cM
• Alliance: Smarca4^b2b508.1Clo page

Mutant 508-004-NL exhibits malalignment of the great arteries with blood congested atria and inferior vena cava (IVC).

Show the 13 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 b2b508Clo. The molecular lesion is a C to T substitution at coing nucleotide 2381 in exon 16 of the cDNA (c.2381C>T, NM_011417). This cahnges the threonine residue to isoleucine at position 794 of the encoded protein (p.T794I). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Smarca4^b2b508.1Clo, 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: 109 strains or lines available

Notes

This mutation was derived from the parent line b2b508Clo.

Summative Diagnosis:
Mutant Phenotype I: Cardiac defects: DORV, AVSD, VSD. Noncardiac defects: Microcephaly, micrognathia, anopthalmia.

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
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
4163	Micrognathia
4310	Microcephaly
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)