Exon 2, which is common to all known isoforms, was disrupted by the in frame insertion of beta-geo and floxed neo. Full length protein was undetected by Western blot analysis of homozygous mutant bone marrow, spleen, and thymus, though truncated polypeptides, translated from transcripts with aberrant splicing from exon 1 to 3, were identified in the spleen and thymus. Low levels of protein arising from the targeted locus were detected by immunohistochemical analysis of homozygous mutant splenocytes. (J:82813)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion
--
1
4
17

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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