Smarca4^tm1.2Pcn
Targeted Allele Detail

Summary

• Symbol: Smarca4^tm1.2Pcn
• Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; targeted mutation 1.2, Pierre Chambon
• MGI ID: MGI:3605892
• Synonyms: Brg1^F, brg1^FL, Brg1^L2, Brg1^lox, Smarca4^tm1Grc, Smarca4^tm1Pcn, SNF2Beta^L:La
• Gene: Smarca4 Location: Chr9:21527465-21615526 bp, + strand Genetic Position: Chr9, 7.84 cM
• Alliance: Smarca4^tm1.2Pcn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:66861
• Parent Cell Line: P1 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A single loxP site was inserted upstream of exon 18 and a floxed hygromycin resistance cassette was inserted downstream of exon 19. The hygromycin resistance cassette was selectively excised from correctly targeted ES cells by transient transfection with a cre-expression vector. Exons 18 and 19, encoding part of the ATPase-helicase motifs, were thus flanked by loxP sites in the resulting ES cells. (J:42997, J:101729)

Expression

In Mice Carrying this Mutation:	252 assay results 11 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	30 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Smarca4^tm1.2Pcn

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

Phenotypic Similarity to Human Syndrome: Aortic Valve Disease J:226941 in mice homozygous for Smarca4^tm1.2Pcn and heterozygous for either Nfatc1^tm1(cre)Bz or Nfatc1^tm1.1(cre)Bz.

References

• Original: J:66861 Bultman S, et al., A Brg1 null mutation in the mouse reveals functional differences among mammalian SWI/SNF complexes. Mol Cell. 2000 Dec;6(6):1287-95
• All: 113 reference(s)