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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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Gene editing
Birc3
tm1Jda
Alias:
c-IAP2
H570A
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Basic Information
Phenotypes
References Literature
Exon 9 was replaced with one in which histidine cocon 572 (CAT) was changed to alanine (GCT) (p.H572A). A loxP site flanked neomycin resistance gene cassette was inserted downstream of the modified exon 9 (the last exon). (J:166899)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4887220
129 x C57BL/6
Targeted
Insertion, Nucleotide substitutions
--
1
1
5
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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