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A targeting vector was designed to insert a floxed neo and DNA construct containing a pathogenic 5-bp deletion ((797-801_AACTT) and two point mutations in exon 6. This construct resulted in a truncated protein which contains the same aberrant 8-amino acid C-terminus encoded by the human pathogenic allele. The floxed neo was subsequently removed via cre mediated recombination. (J:121481)
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
