Allele/Variant

Hps5ru2-J

Species
Mus musculus
Symbol
Hps5ru2-J
Category
allele
Allele of gene
Hps5
Transgenic Constructs
None
Synonyms
  • ru-2J
  • ru-2J
Description
This spontaneous mutation was shown to be an allele of Hpsru-2 by complementation testing, and thus an allele of Hps5ru2. Subsequent sequence analysis identified the replacement of G with TT in codon 757, putatively resulting in a frameshift mutation that precludes the translation of 311 carboxy terminal amino acids. Northern blot analysis indicated that the mutation did not affect the expression pattern of the gene.
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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