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Exon 6 was replaced with a neomycin resistance gene via homologous recombination resulting in the deletion of the transmembrane domain containing carboxy terminus of the protein. Western blot analysis of microsomal proteins from diaphram muscles confirmed the absence of gene expression in homozygous mutant animals. (J:45244)
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
