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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Gene trapped
Insertion of gene trap vector
--
1
1
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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