A nonsense mutation was introduced after codon 376 of exon 8 resulting in deletion of the C-terminal region of the protein, which includes the nuclear matrix targeting signal (NMTS), and floxed TK-neo cassette was inserted into the intron preceding exon 8. Transient expression of cre recombinase in correctly targeted cells facilitated removal of the TK-neo cassette. RT-PCR analysis and Western blot confirmed the expression of the truncated gene product in homozygous mutant animals. Sequence analysis of the RT-PCR product confirmed the presence of the premature stop codon in exon 8. (J:70461)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Nucleotide substitutions
--
1
4
11

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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