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An insertion or duplication of a C nucleotide (coding nucleotide 1159 in transcript NM_009271 or ENSMUST00000092576) was detected in exon 12, resulting in a frameshift and premature stop codon. Immunoblotting failed to detect wild-type protein or the predicted truncated protein in whole brain lysates from homozygous mice. (J:229610)
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
