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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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Bbs4
tm1Vcs
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Bbs4
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Bbs4
tm1Shef
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Basic Information
Phenotypes
References Literature
Exons 6-11 were replaced with a neo cassette, removing approximately one-third of the coding sequence and resulting in a frameshift. Northern blot indicated lack of transcript in kidneys of mutants. (J:90812)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3045473
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Intragenic deletion
--
1
5
23
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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