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Allele : Sgce<Gt(148G1)Cmhd> sarcoglycan, epsilon; gene trap 148G1, Centre for Modeling Human Disease

Primary Identifier  MGI:4971042 Allele Type  Gene trapped
Attribute String  Modified isoform(s) Gene  Sgce
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
description  This allele is maternally imprinted. This gene trap is no longer available through the Toronto Centre for Phenogenomics.
molecularNote  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.
  • mutations:
  • Insertion of gene trap vector
  • synonyms:
  • Sgce<Gt>,
  • Sgce<Gt>,
  • MGI:3854527
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele