Cers2^tm1.2Kwi
Targeted Allele Detail

Summary

• Symbol: Cers2^tm1.2Kwi
• Name: ceramide synthase 2; targeted mutation 1.2, Klaus Willecke
• MGI ID: MGI:7621227
• Synonyms: CerS2H212A/H213A, CerS2 H/A
• Gene: Cers2 Location: Chr3:95222102-95230910 bp, + strand Genetic Position: Chr3, 40.74 cM, cytoband F2
• Alliance: Cers2^tm1.2Kwi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:265853
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Reporter)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A loxP site, a copy of the wild type genomic sequence containing exons 3-11 including the stop codon and poly(A) signal sequences, an FRT site flanked neomycin resistance gene cassette and a second loxP site were inserted into intron 2. Codons 212 (CAC) and 213 (CAT) in endogenous exon 8 were changed to alanine (GCC, GCT) (p.H212_H213delinsAA) and IRES sequences and the EGFP reporter gene were inserted into the 3' UTR between stop codon and poly(A) signal. Subsequent Cre-mediated recombination deleted wild type exons 3-11 and the neo cassette. This allele expresses the mutated peptide and the EGFP reporter. The mutations, in the TLC domain of the encoded peptide, abolishes its catalytic activity. (J:265853)

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 Cers2 Mutation: 60 strains or lines available

References

• Original: J:265853 Bickert A, et al., Inactivation of ceramide synthase 2 catalytic activity in mice affects transcription of genes involved in lipid metabolism and cell division. Biochim Biophys Acta Mol Cell Biol Lipids. 2018 Jul;1863(7):734-749
• All: 2 reference(s)