The replacement of a 1.4 kb genomic fragment with a neo cassette resulted in the disruption of both the Cd247 and Pou2f1 loci, which are located at the same chromosomal position on opposite strands. The deletion of a 3' portion of Cd247 exon 9 and its splice acceptor site disrupted sequence encoding the eta isoform while leaving the sequence encoding the zeta isoform intact. Neither eta transcript nor protein was detected in homozygous mutant mice while normal expression of zeta chain homodimers was confirmed by 2D SDS-PAGE analysis. The insertion of the neo cassette also replaced the 3' UTR of the Pou2f1 locus, resulting in reduced expression of normal transcript as well as in an induced expression of aberrant transcript. (J:17251)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intergenic deletion
--
1
4
1

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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