Samd8^tm1.1Kwi
Targeted Allele Detail

Summary

• Symbol: Samd8^tm1.1Kwi
• Name: sterile alpha motif domain containing 8; targeted mutation 1.1, Klaus Willecke
• MGI ID: MGI:5707954
• Synonyms: SMSrD348E
• Gene: Samd8 Location: Chr14:21800599-21848794 bp, + strand Genetic Position: Chr14, 11.86 cM, cytoband B
• Alliance: Samd8^tm1.1Kwi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:228568
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Reporter)
• Mutations: Insertion, Single point mutation
• Mutation details: The modified gene contains a single frt site downstream of exon 5 (left by FLP recombinase excision of a neomycin resistance cassette); a point mutation that results in replacement of one of two catalytically essential amino acids encoded by exon 6, exchanging aspartic acid at amino acid position 348 for glutamic acid (D348E); and an internal ribosomal entry site (IRES) followed by the E. coli beta-galactosidase gene (lacZ) with a nuclear localization signal downstream of exon 6. The enzyme encoded by this mutant allele is catalytically inactive. Mice with this transgene express the lacZ reporter protein under control of the endogenous promoter. (J:228568)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Samd8 Mutation: 31 strains or lines available

References

• Original: J:228568 Bickert A, et al., Functional characterization of enzymes catalyzing ceramide phosphoethanolamine biosynthesis in mice. J Lipid Res. 2015 Apr;56(4):821-35
• All: 1 reference(s)