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SqleSum3-Jus
Chemically induced Allele Detail
Nomenclature
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: Chr15:59315092-59331193 bp, + strand  Genetic Position: Chr15, 25.16 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
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)
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 Sqle Mutation:  21 strains or lines available
Notes
Dominant modifier
References
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)

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
04/13/2021
MGI 6.16
The Jackson Laboratory