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LoxP sites were inserted into intron 10 and intron 13. Cre-mediated recombination removed exons 11 through 13. The predicted truncated product mimicks the protein involved in Amish nemaline myopathy. A FRT-flanked neomycin resistance cassette was inserted into intron 10. Western blot analysis confirmed the absence of protein expression in the soleus muscle. (J:219907)
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
