Exon 2 was deleted and replaced with a promoter-less beta-geo cassette via homologous recombination. Northern blot confirmed the absence of normal transcript in homozygous mutant animals. RT-PCR analysis using primers to exon 1 and exon 3 detected a faint mutant read-through product. Western blot analysis of spleen and liver nuclear extracts from homozygous animals detected a small mutant protein presumed to be the translation product from exon 1, and would lack any functional domains. (J:68356)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
--
21

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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