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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
Nbn
tm3Jpt
Alias:
Nbn
deltaBC
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Basic Information
Phenotypes
References Literature
The targeting vector used to create Nbntm1Jpt was used in embryonic stem cells containing Nbntm2.1Jpt to create an allele that coded for amino acids 221 to 727. The predicted protein lacks the FHA, BRCT and ATM-interacting domains. (J:144172)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3831174
129/Sv
Targeted
Insertion, Intragenic deletion
--
1
16
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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