A neomycin resistance cassette inserted into intron 5, deleting the 5' splice site upstream of exon 6. This allele is predicted to produce only the short form transcript but not express the long form. Q-PCR confirmed reduced total transcript expression in the lung and skin, but not other tissues. Authors state that this allele might be hypomorphic in the lungs but not other tissues. (J:205009)

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
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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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