Sgce^tm1.2Yql
Targeted Allele Detail

Summary

• Symbol: Sgce^tm1.2Yql
• Name: sarcoglycan, epsilon; targeted mutation 1.2, Yuqing Li
• MGI ID: MGI:3604206
• Synonyms: Sgce^tm1Ygl
• Gene: Sgce Location: Chr6:4674350-4747180 bp, - strand Genetic Position: Chr6, 1.81 cM
• Alliance: Sgce^tm1.2Yql page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:101332
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: An FRT-flanked neo cassette with a 3' loxP site was inserted upstream of exon 4. An additional loxP site was inserted downstream of exon 4. Exon 4 was deleted via cre mediated recombination. RT-PCR analysis failed to detect mRNA from mutant brain samples. Deletion of exon 4 would cause a frame shift and create a premature stop codon in exon 5 when splicing occurs between exons 3 and 5. (J:101332)

Disease models

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: 45 strains or lines available

Notes

This allele is maternally imprinted.

References

• Original: J:101332 Yokoi F, et al., Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain. FEBS Lett. 2005 Aug 29;579(21):4822-8
• All: 4 reference(s)