Rs1^em1Fegu

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Species

Mus musculus

Symbol

Rs1^em1Fegu

Category

allele

Allele of gene

Rs1

Transgenic Constructs

None

Synonyms

• RS1-KI

Description

TALEN technology introduced a missense T to G mutation at position 195 in exon 4 resulting in a tyrosine to stop codon at amino acid 65 (Y65X). This is a mutation identified in a family with X-Linked Juvenile Retinoschisis. Western blot analysis confirmed absence of protein in the retina.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations