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Exon 5 was replaced with one containing an A to G point mutation resulting in a histidine to arginine change at amino acid 304 (H304R) that corresponds to the human H306R mutation seen in Charcot-Marie-Tooth type 2O patients. A FRT-flanked neomycin resistance cassette was inserted in intron 5-6 and was removed via Flp-mediated recombination. Western blot analysis confirmed expression of the protein. (J:264493)
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
