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Arginine codon 654 (CGA) exon 20 was changed to tryptophan (TGG) (p.R654W). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 19 was removed via Cre-mediated recombination. Western blot demonstrated protein levels were approximately the same in mutants and wild-type. (J:105548)
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
