Allele/Variant

Col4a4m1Btlr

Species
Mus musculus
Symbol
Col4a4m1Btlr
Category
allele
Allele of gene
Col4a4
Transgenic Constructs
None
Synonyms
  • Aoba
Description
The mutation has been identified as a G to A transition that impairs the donor splice site of intron 8. Reverse transcription of mRNA followed by PCR amplification revealed a deletion of 8 nucleotides in the transcript, resulting in a frame-shift that causes the addition after amino acid 176 of 13 aberrant amino acids followed by a premature termination codon.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
    Disease Qualifier
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