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Smc6tm1Arln
Targeted Allele Detail
Summary
Symbol: Smc6tm1Arln
Name: structural maintenance of chromosomes 6; targeted mutation 1, Alan R Lehmann
MGI ID: MGI:5695349
Synonyms: SMC6-S994A neo
Gene: Smc6  Location: Chr12:11315887-11369786 bp, + strand  Genetic Position: Chr12, 5.58 cM, cytoband A2
Alliance: Smc6tm1Arln 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, Intragenic deletion
 
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. Western blot analysis confirmed reduced protein expression in mouse embryonic fibroblasts. (J:220422)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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)
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last database update
09/03/2024
MGI 6.24
The Jackson Laboratory