Exon 3 was replaced with a floxed neo cassette. The deleted exon is common to all three known isoforms and does not overlap with Cd247, a locus that overlaps a distal portion of the Pou2f1 locus. Mutant transcript, in which exon 2 aberrantly splices to exon 4a, was identified by RT-PCR analysis of homozygous mutant MEFs. The aberrant splicing results in a frameshift mutation which consequently generates a nonsense mutation and precludes the translation of two-thirds of the mature protein including the DNA-binding domain. Supershift analysis of DNA binding assays using nuclear extracts from homozygous cells detected very low levels of protien, thus this is a severely hypomorphic allele. (J:87664)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion, Intragenic deletion
--
1
--
7

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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