Smchd1^tm1.2Maar
Targeted Allele Detail

Summary

• Symbol: Smchd1^tm1.2Maar
• Name: SMC hinge domain containing 1; targeted mutation 1.2, Silvere van der Maarel
• MGI ID: MGI:6155691
• Synonyms: Smchd1^Del
• Gene: Smchd1 Location: Chr17:71651484-71782338 bp, - strand Genetic Position: Chr17, 41.87 cM
• Alliance: Smchd1^tm1.2Maar page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:255702
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A targeting construct introduced loxP sites surrounding exon 4 of mouse Smchd1 gene and a neomycin cassette flanked by Frt sites by recombineering. The neomycin cassette was removed by crossing with the FLPe knockin mouse strain. Cre-mediated recombination of Smchd1^tm1.1Maar removed exons 4. Western blot analysis onfirmed the absence of wild-type protein in homozygous embryos at E12.5. (J:255702)

Expression

In Mice Carrying this Mutation:

16 assay results 1 RNA-Seq or microarray experiment(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Smchd1 Mutation: 143 strains or lines available

References

• Original: J:255702 de Greef JC, et al., Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model. Hum Mol Genet. 2018 Feb 15;27(4):716-731
• All: 2 reference(s)