Sgms1^{tm1b(EUCOMM)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Sgms1^{tm1b(EUCOMM)Wtsi}
• Name: sphingomyelin synthase 1; targeted mutation 1b, Wellcome Trust Sanger Institute
• MGI ID: MGI:7782601
• Synonyms: Sgms1 tm1b
• Gene: Sgms1 Location: Chr19:32100127-32367114 bp, - strand Genetic Position: Chr19, 26.68 cM
• Alliance: Sgms1^{tm1b(EUCOMM)Wtsi} page
• IMPC: Sgms1 gene page

Mutation origin

• Mutant Cell Line: EPD0725_2_G05
• Germline Transmission: Earliest citation of germline transmission: J:358542
• Parent Cell Line: JM8A3.N1 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion Vector: L1L2_Bact_P
• Mutation details: The L1L2_Bact_P cassette was inserted at position 32119920 of Chromosome 19 upstream of the critical exon(s) (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon(s) at position 32120728. The critical exon(s) is/are thus flanked by loxP sites. A null/knockout allele was created by cre recombinase expression in mice carrying the tm1a allele to remove the neo selection cassette and loxP-flanked critical exon(s). Further information on targeting strategies used for this and other IKMC alleles can be found at http://www.informatics.jax.org/mgihome/nomen/IKMC_schematics.shtml (J:358542)

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 Sgms1 Mutation: 227 strains or lines available

References

• Original: J:358542 Chen J, et al., A new mutation of Sgms1 causes gradual hearing loss associated with a reduced endocochlear potential. Hear Res. 2024 Sep 15;451:109091
• All: 1 reference(s)