A stop codon was introduced into sequence encoding the PDZ3 domain. In addition, a cassette containing IRES-lacZ and neo was inserted downstream to replace sequence putatively essential for subcellular localization. An RNAse protection verified transcription of the targeted allele. While low levels of the mutant protein containing the PDZ1 and PDZ2 domains were detected by Western blot analysis of homozygous mutant forebrain extracts, the mutant protein was undetected in the synaptosome, synaptic plasma membrane, and posynaptic density fractions. Comparisons with previous results of in situ hybridization studies showed the expression pattern of beta-galactosidase to resemble that of the endogenous gene. (J:77693)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
3
23

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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