The 5' portion of exon 1 was replaced with corresponding human sequence mutagenized to contain substitution mutations at all 5 phosphorylation sites, Thr7, Ser8, Ser13, Ser17, and Ser38 (human positions). The incorporation of the specific mutations was verified by sequence analysis as well as by Western blot analysis using antibodies directed toward the phosphorylation sites. Northern blot analysis of total brain RNA showed that transcript levels were unaffected in mutant mice. Immunohistochemical analysis of brain tissue showed that while the distribution of protein was conserved in mutant mice, protein levels were reduced in various regions. (J:78341)

Basic Information

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

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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