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EN
This retinal degeneration mutation was discovered in conjunction with Scn8anmf5 during an ENU mutagenesis screen at the Neuroscience Mutagenesis Facility at The Jackson Laboratory. Genetic studies demonstrated that a separate gene other than Scn8a was responsible for the retinal phenotype. Candidate gene testing showed that no coding or splice site mutation was present in Pde1b.
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
