About   Help   FAQ
Smc6tm1.1Arln
Targeted Allele Detail
Summary
Symbol: Smc6tm1.1Arln
Name: structural maintenance of chromosomes 6; targeted mutation 1.1, Alan R Lehmann
MGI ID: MGI:5695351
Synonyms: SMC6-S994A
Gene: Smc6  Location: Chr12:11315887-11369786 bp, + strand  Genetic Position: Chr12, 5.58 cM, cytoband A2
Alliance: Smc6tm1.1Arln page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:220422
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Single point mutation
 
Mutation detailsThe targeting construct introduced a T to G mutation that results in the amino acid substitution of alanine for serine at position 994 (S994A) and a floxed neomycin resistance cassette into intron 25. Cre-mediated recombination removed the selection cassette. (J:220422)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Smc6 Mutation:  53 strains or lines available
References
Original:  J:220422 Ju L, et al., SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalities. DNA Repair (Amst). 2013 May 1;12(5):356-66
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/09/2024
MGI 6.23
The Jackson Laboratory