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This spontaneous mutation is an approximately 326 kb duplication from Chromosome 19 19,010,565 bp to 19,336,747 bp (GRCm38), which includes the first exon of this gene. Transcript levels in the brain are decreased but not in the retina. Abnormal transcripts were not found by 5-prime RACE. (J:222308, J:337403)
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
