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The targeting construct introduced upstream of exon 21 a lox P site, modified exon 21 containing an inserted G bp and a neomycin resistance and STOP cassette with a 3' loxP site. The resulting frameshift causes a premature STOP codon and loss of major higher molecular weight isoforms at the synapse. This insertion is present in patients with autism. Cre-mediated recombination is required to remove the modified exon and selection/STOP cassette. (J:224381)
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
