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A yeast artificial chromosome (YAC) library was used to obtain a 560 kb BAC (49G7, also called 49H7) containing the entire human peripheral myelin protein 22 (PMP22) gene. Founder line C22 and carries 7 copies of the YAC, resulting in a more severe phenotype than the lower copy number line C3 mice. Overexpression of PMP22 is associated with Charcot-Marie-Tooth disease type 1A (CMT1A). (J:237901)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
