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EN
The MitoCharc1 transgene was designed with the human Mitofusin 2 (MNF2) gene driven by a rat enolase (Eno2) promoter. Amino acid 94 of MNF2 was mutated from an Arginine (R) to a Glutamine (Q) to mimic the most commonly mutated residue in Charcot-Marie-Tooth disease type 2A (CMT2A). Line L51 was established. (J:158936)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
