The majority of the exon encoding amino acids 120-176 was replaced with a neomycin resistance cassette via homologous recombination. RT-PCR analysis of liver RNA from homozygous mutant animals revealed a faint truncated transcript resulting from an alternative splice product which skips the disrupted exon. Western blot analysis of brain nuclear extracts detected a shortened protein product expressed at less than 1% the amount of wild-type protein. Co-immunoprecipitation experiments showed that the mutant protein lacked functional capabilities. (J:51536)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Intragenic deletion
--
1
2
18

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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