Replacement of 91bp upstream of the testis specific transcription start site and the first 17bp of the testis specific first exon with a neomycin cassette. All of the somatic coding regions downstream of the neomycin cassette were inserted into intron 12. However, somatic isoforms expressed from this allele do not contain the C-terminal hydrophobic tail. Northern blot and RT-PCR analysis revealed that a cryptic splice site caused a 40bp insertion into the transcript and introduced an in frame stop codon. Western blot and activity assays demonstrated an absence of protein in tissues of homozygous mice. (J:40475)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Intragenic deletion
--
1
4
9

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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