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A floxed neo cassette was inserted into intron 3 and exon 4 was replaced with one which contained codons for 6 altered amino acids followed by a premature stop codon as is seen in a human frameshift mutation. Transient cre expression in ES cells was used to remove the neo cassette. Western blot analysis of skeletal muscle confirmed the expression of a truncated protein consisting of 634 amino acid residues. (J:134157)
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
