Sgce^{Gt(148G1)Cmhd}
Gene trapped Allele Detail

Summary

• Symbol: Sgce^{Gt(148G1)Cmhd}
• Name: sarcoglycan, epsilon; gene trap 148G1, Centre for Modeling Human Disease
• MGI ID: MGI:4971042
• Synonyms: Sgce^Gt
• Gene: Sgce Location: Chr6:4674350-4747180 bp, - strand Genetic Position: Chr6, 1.81 cM
• Alliance: Sgce^{Gt(148G1)Cmhd} page

Mutation origin

• Mutant Cell Line: 148G1
• Germline Transmission: Earliest citation of germline transmission: J:251780
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Gene trapped (Modified isoform(s))
• Mutation: Insertion of gene trap vector Vector: Gen-SD5
• Mutation details: The terminal exons (3' to exon 9) of Sgce were disrupted by the gene trap vector insertion. Homozygotes and heterozygotes with the paternally inherited allele show 60-70% reductions in expression of total Sgce. IAP-mass spectrometry and qRT-PCR shows that the major and brain-specific isoforms are eliminated while short isoforms terminating 5' to intron 9 and small amounts of a chimeric epsilon-sarcoglycan/beta-gal fusion protein are preserved. (J:251780)
• Sequence Tags: Sequence tag details (1 tag)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  CMHD-GT_148G1-3	CW509161 ; (MGI Seq Detail)	3' RACE	Chr6:4674352-4678108 bp (-)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

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

Expression

In Structures Affected by this Mutation:

1 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 Sgce Mutation: 42 strains or lines available

Notes

This allele is maternally imprinted. This gene trap is no longer available through the Toronto Centre for Phenogenomics.

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)