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Chemically induced Allele Detail
Symbol: SqleSum3-Jus
Name: squalene epoxidase; suppressor of methyl CpG binding protein 2-1, 1 Monica J Justice
MGI ID: MGI:5489914
Synonyms: line 895, Sum3M1Jus
Gene: Sqle  Location: Chr15:59186941-59203042 bp, + strand  Genetic Position: Chr15, 25.16 cM
Alliance: SqleSum3-Jus page
Strain of Origin:  C57BL/6J
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis allele was discovered in a screen for attenuation of the Mecp2tm1.1Bird/Y phenotype among male G1 offspring from crosses of 129S-Mecp2tm1.1Bird/+ female mice by ENU-treated C57BL/6J males (G0). The mutation has been identified as a C-to-T transversion at coding nucleotide 1195 of the cDNA sequence (c.1195C>T) that results in an arginine to translation stop substitution at position 399 of the encoded protein (p.R399*). Western blot analysis confirmed the absence of protein expression of the short and long forms in E8.0 embryos. (J:198551)
Inheritance:    Other (see notes)
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 Sqle Mutation:  22 strains or lines available
Dominant modifier
Original:  J:198551 Buchovecky CM, et al., A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett Syndrome. Nat Genet. 2013;45(9):1013-20
All:  1 reference(s)

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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
MGI 6.22
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