Retroviral gene trap insertion occurred between exons 8 and 9. The insertion truncated the protein after amino acid 215, removing half of the protein including the predicted active site. RT-PCR analysis of P0 mutants confirmed elimination of wild-type mRNA. No truncated protein was detected by Western blot analysis; however, a small amount of normal protein was detected in both homozygous and heterozygous mutants, probably due to a small amount of splicing around the gene trap. (J:103485, J:249381)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S5/SvEvBrd
Gene trapped
Insertion of gene trap vector
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1
--
2

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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