A 5kb genomic fragment at the 5' end of the gene was replaced by a neomycin resistance cassette. These deleted sequences include coding regions for the C-terminal portion of the DSL domain. RT-PCR analysis demonstrated that no transcript was detectable in RNA isolated from E10 homozygous embryos, and Western blot analysis on extracts of E10.5 homozygous embryos confirmed that the protein was not expressed. (J:54907)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Intragenic deletion
--
1
4
29

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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