Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | Notes | References

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 details: This 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).

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:	38 strains or lines available

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)