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A neomycin resistance cassette replaced 1.7 kb of genomic sequence including the 3' half of exon 5, and exons 6 and 7, removing the portion of the gene that encodes amino acids 212-343. Western blot analysis using a carboxy terminal specific antibody did not detect protein in brain tissue from homozygous mutant mice. RT-PCR analysis of brain did not detect expression in homozygous mutant mice. (J:62244)
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
