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The allele was designed to alter exon 21 by inserting a single guanine nucleotide at cDNA position 3680; causing a frameshift and downstream stop codon. A loxP-flanked PGK-neo-pA cassette was also inserted downstream of the mutant stop codon. Cre-mediated recombination removed the floxed neo cassette. The mutation was first identified in two brothers diagnosed with autism spectrum disorder (ASD) accompanied by severe mental retardation. Antibodies to both the N and C terminus do not detect protein in striatal tissue. (J:230887)
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
