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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
Zic2
em5Bend
Alias:
Zic2
A19
C3H-19
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Basic Information
Phenotypes
References Literature
TALEN mediated recombination introduced a 12 bp deletion and an A to C mutation resulting in a 4 amino acid deletion (Tyr 401 - Ser 405) and the insertion of an Arginine (p.Tyr401_Ser405delinsArg). (J:199882)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5566856
C3H/HeH
Endonuclease-mediated
Intragenic deletion, Single point
--
1
9
2
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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