Sequence common to both known splice variants was replaced with a neo cassette. The absence of normal transcript in homozygous mice was determined by Northern blot analysis, which showed the presence of a truncated transcript resulting from the aberrant splicing of exons 4 and 7. The splice event was confirmed by RT-PCR and sequence analysis. The truncated transcript encoded 116 fewer amino acids than the normal transcript and had 33 missense mutations. No protein was detected in homozygous mutant mice by Western blot analysis using an antibody directed against the amino terminal region. (J:52211)

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
--
16

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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