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A targeting vector was designed to introduce an H77C (TGC->CAC) missense substitution in exon 3, and place a loxP-flanked pgk-neomycin resistance cassette (in opposite transcriptional orientation) into intron 3 of the gene. Alpha-sarcoglycan mRNA is not detected by RT-PCR, and protein is not detected by Western blot or immunofluorescence staining of skeletal muscle. (J:130252)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
