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A C to T transition at position 892 resulting in an arginine to cysteine substitution at amino acid 298 (p.R298C) was introduced in exon 5 and an loxP-flanked neomycin selection cassette was inserted in intron 5. The selection cassette was removed via cre-mediated recombination. The R298C is the causative homozygous mutation in patients with Charcot-Marie-Tooth disease type 2B1. (J:322912)
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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References Literature
Title
PMID
Journal
Year
IF
