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The 3' portion of exon 1 and adjacent splice donor site were replaced with a neo resistance cassette via homologous recombination. Absence of gene expression was confirmed by Northern and Western blot analysis of skeletal muscle from homozygous mutant animals. In addition, RT-PCR failed to amplify the complete coding region of the gene as well as portions of the transcript corresponding to exons 2, 3, and 4. (J:62133)
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
