The gene trap vector pGT2LxF, which contains a beta-geo cassette, inserted downstream of exon 20. The predicted fusion protein, containing amino acids 1 through 693, lacks the PDZ domain found in the C-terminus of the endogenous protein. The expression of the fusion protein lacking the PDZ domain was confirmed by western blot analysis on brain extracts. (J:149996)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Gene trapped
Insertion of gene trap vector
--
1
--
7

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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