Sqle^Sum3-Jus
Chemically induced Allele Detail

Summary

• Symbol: Sqle^Sum3-Jus
• Name: squalene epoxidase; suppressor of methyl CpG binding protein 2-1, 1 Monica J Justice
• MGI ID: MGI:5489914
• Synonyms: line 895, Sum3^M1Jus
• Gene: Sqle Location: Chr15:59186941-59203042 bp, + strand Genetic Position: Chr15, 25.16 cM
• Alliance: Sqle^Sum3-Jus page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This allele was discovered in a screen for attenuation of the Mecp2^tm1.1Bird/Y phenotype among male G1 offspring from crosses of 129S-Mecp2^tm1.1Bird/+ 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)

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: 41 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)