A 400 bp fragment was deleted from the 5' portion of the gene. This deleted sequence included the promoter and the transcription and translation start sites. In addition a neo cassette was inserted into the second leader exon, disrupting the leader sequence and generating a premature stop codon immediately downstream of exon 2. Transcript was undetected by Northern blot analysis of homozygous bone marrow macrophages (BMM) even after stimulation with interferon gamma. Surface protein was undetected via ligand or antibody binding. (J:86281)

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
--
35

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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