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The targeting was designed to alter the DNA sequence of codon 148 in exon 3 from CTA to ATG creating a leucine-to-methionine amino acids substitution (L148M) and insert a loxP-flanked PGK-neo selection cassette in intron 3. The substitution is analogous to the human Val<158>Met mutation. Cre-mediated recombination removed the floxed neo cassette. Immunoblot analysis indicats that both soluble and membrane bound protein isoforms are reduced in all brain regions. (J:269121)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
