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Exon 16 was replaced with one containing an A-to-G nucleotide change resulting in a lysine to glutamic acid substitution at amino acid 562 (p.K562E). In addition, protamine, cre- and selection marker cassettes flanked by loxP sites were inserted in intron 16-17 which were removed via cre-mediated recombination. The K562E mutation is associated with dominant-intermediate Charcot-Marie-Tooth type B disease. (J:288372)
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
