Exon 9, encoding a proteolytic cleavage site, and flanking intronic sequence were replaced with a neomycin resistance gene cassette. A reduced level of mRNA was detectable by RT-PCR from this allele; sequence analysis revealed splicing from exon 8 to exon 10 without frameshift. However, Western blot analysis revealed that expression of the protein was abolished, and this allele is suggested to be a null. (J:67969)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Intragenic deletion
--
1
17
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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