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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Transgene
2310039L15Rik
Tg(Prnp-SNCA*A53T)23Mkle
Alias:
PrPsynA53T
PrP-SCNA
A53T
hA53Talpha-syn
G2-3
MoPrP-Hualpha-Syn(A53T)
Hualpha-Syn(A53T)
A53T-syn
alphaSyn
Tg
Tg(Prnp-SNCA*A53T)23Dpr
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Basic Information
Phenotypes
References Literature
The transgene contains a human alpha synuclein cDNA encoding the Ala53Thr amino acid substitution, and the murine prion promoter. Line 23 inserted into the gene at 95350683-95399000 (Build GRCm38/mm10) resulting in a 48,317 bp deletion. (J:77344)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
3530127
(C3H/HeJ x C57BL/6J)F1
--
Insertion, Intragenic deletion
--
--
--
46
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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