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Allele : Poc1a<cha> POC1 centriolar protein A; chagun

Primary Identifier  MGI:2135614 Allele Type  Spontaneous
Attribute String  Null/knockout Gene  Poc1a
Inheritance Mode  Recessive Strain of Origin  DBA.B6-A<hvy>/a x DBA/2J
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 8 is disrupted by the insertion of a nearly full-length transcript (in reverse orientation) of centromere protein W (Cenpw) gene, including a 61 nucleotide poly-A tail that is 24 bp downstream from the common polyadenylation sequence AUUAAA. The total size of the insertion is 495 bp, and it includes a 5 untranslated region (UTR) lacking only seven bp relative to the published transcription start site, all three exons of Cenpw, and a 3UTR. Sequencing of the mutant RT-PCR product revealed that exon 8 is skipped precisely, preserving the reading frame of the transcript. Western blots were carried out to detect the expressed protein in tibiae. A single band of similar intensity was detected in wild type and mutant tibia, suggesting that a mutant protein is expressed.
  • mutations:
  • Insertion
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories