The human CHMP2B cDNA containing a missense mutation in the splice acceptor site of exon 6, a mutation identified in human familial FTD, is under the control of the tetracycline promoter. The mutation results in a truncation at the carboxy terminus such that the microtubule interacting and trafficking motif is lost. (J:227797)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
--
Insertion
--
1
--
3

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

References Literature

Title
PMID
Journal
Year
IF
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