Allele/Variant

Cep290b2b1454Clo

Species
Mus musculus
Symbol
Cep290b2b1454Clo
Category
allele
Allele of gene
Cep290
Transgenic Constructs
None
Synonyms
  • Cep290c.T4670A
  • Checkers
Description
This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 4670 in exon 34 of the cDNA (c.4670T>A, NM_146009). This changes the leucine residue to a translation stop at position 1557 of the encoded protein (p.L1557*).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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