Threonine codon 355 (ACG) in exon 8 was changed to methionine (ATG) (p.T355M) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 7. The mutation, in the seventh transmembrane domain of the encoded peptide, is the equivalent of the human p.T356M mutation associated with autism spectrum disorder (ASD). (J:289651)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Targeted
Insertion, Single point
--
1
4
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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