An frt-flanked neo cassette and a loxP-flanked lacZ cassette were inserted at the endogenous locus. The neo cassette was inserted at a restriction site within intron 4 while the lacZ cassette was inserted in frame in exon 5, disrupting codons 264 through 340 which make up the majority of the cytoplasmic domain. Normal protein was undetected in homozygous mutant mice by Northern blot analysis, however a truncated transcript was detected. This mutation is expected to ablate both forward and reverse signaling. The presence of the neo cassette prevented expression of lacZ. (J:87497)

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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16

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

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PMID
Journal
Year
IF
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