A neomycin resistance cassette, corrected for a point mutation believed to affect the transformation efficiency of ES cells, was used to disrupt exon 9, which is common to all of the isoforms. The mutation results in the introduction of several stop codons downstream of the insertion. FACS analysis using antibodies for multiple isoforms showed an absence of cell surface expression in homozygous mutant mice. A lack of encoded protein was further confirmed by Western blot analysis of thymus lysates. (J:33466)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion
--
1
2
32

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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