Sgms1^{Gt(E201D11)Wrst}
Gene trapped Allele Detail

Summary

• Symbol: Sgms1^{Gt(E201D11)Wrst}
• Name: sphingomyelin synthase 1; gene trap E201D11, German Gene Trap Consortium
• MGI ID: MGI:3918301
• Synonyms: Sms1^-, Sms1^{Gt(E201D11)Wrst}
• Gene: Sgms1 Location: Chr19:32100127-32367114 bp, - strand Genetic Position: Chr19, 26.68 cM
• Alliance: Sgms1^{Gt(E201D11)Wrst} page

Mutation origin

• Mutant Cell Line: E201D11
• Germline Transmission: Earliest citation of germline transmission: J:249941
• Parent Cell Line: E14TG2a.4 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Gene trapped (Null/knockout)
• Mutation: Insertion of gene trap vector Vector: rsFROSAbgeo+2s
• Mutation details: A conditional gene trap vector inserted intron 3, which locates upstream of the first open reading frame in exon 7. In homozygous mutant testes samples, protein expression was reduced to ~5.5% of wild-type protein levels. Northern blot analysis revealed that alternative transcripts Sms1-004 (2.5kb) and Sms1-001 (3.7kb) were the major residual transcripts in testes, showing a strong mean reduction to ~3.1% of wild-type levels, reflecting the detected amount of protein. The transcript Sms1-002 (4.0kb), which initiates upstream of the insertion site, was expressed in marginal amounts in wild-type but was not detected in mutant testes. (J:249941)
• Sequence Tags: Sequence tag details (2 tags)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  5SE201D11	FI574145 ; (MGI Seq Detail)	5'Splinkerette PCR	Chr19:32232413-32232730 bp (-)
  3SE201D11	FI574144 ; (MGI Seq Detail)	3'Splinkerette PCR	unknown
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

  414 gene trap insertions have trapped this gene; View all gene trap sequence tags in this region

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

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: 230 strains or lines available

References

• Original: J:141210 Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI), Mouse Gene Trap Data Load from dbGSS. Database Download. 2008
• All: 2 reference(s)