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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
Gabrr1
em1Rah
Alias:
rho1 (T6'Y)
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Basic Information
Phenotypes
References Literature
A single stranded oligonucleotide introduces the ACC to TAT nucleotide substitutions (resulting in the T298Y amino acid substitution) and a silent single base substitution (C to T) in codon 301 (for genotyping) into the Gabrr1 gene. (J:242963)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5907202
C57BL/6J
Endonuclease-mediated
Insertion, Nucleotide substitutions
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1
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1
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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