Allele/Variant

Aipl1tvrm119

Species
Mus musculus
Symbol
Aipl1tvrm119
Category
allele
Allele of gene
Aipl1
Transgenic Constructs
None
Synonyms
None
Description
This ENU-induced c.276+5G>A single nucleotide transition in a splice donor site is predicted to delete expression of exon 2 and thereby result in an in-frame deletion of amino acids Val33-Ile92, which includes much of the FKBP homology domain.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
References
abnormal electroretinogram waveform feature
MGI
abnormal visual evoked potential
MGI
retina photoreceptor degeneration
MGI
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Disease Associations

Association
Disease Qualifier
Disease
Annotation details
Evidence
Source
References
is implicated inLeber congenital amaurosis 4
  • TAS
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