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The transgenic construct contains a mutant human profilin 1 cDNA sequence with a V5 tag (45 bp) fused to the N-terminus and inserted downstream of the modified ~6.5 kbp mouse Thy1.2 promoter sequences. PFN1 harbors the C71G mutation associated with amyotrophic lateral sclerosis (ALS). (J:235427)
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
