Insertion of a gene trap vector resulted in aberrant splicing from exon 63 to the inserted Beta-geo gene. RT-PCR analysis demonstrated that the mRNA was mutated in this allele, although a very low level of wild-type transcript was detected in brain. Full length wild-type protein could not be detected by Western blotting in tissue extracts derived from hemizygous males. (J:47968)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Gene trapped
Insertion of gene trap vector
--
1
18
12

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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