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TALEN mediated recombination created a 17 bp deletion in exon 3 resulting in a frameshift mutation and premature stop codons. Transcript levels are reduced in muscle tissue from homozygous mice and these transcripts are predicted to produce a protein consisting of only a small portion of the N terminus. (J:304135)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
