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Allele : Uchl1<gad-J> ubiquitin carboxy-terminal hydrolase L1; gracile axonal dystrophy Jackson

Primary Identifier  MGI:3832097 Allele Type  Spontaneous
Gene  Uchl1 Strain of Origin  BALB/cJ
Is Recombinase  false Is Wild Type  false
molecularNote  A 795 base-pair intragenic deletion resulted in the removal of the final 24 base-pairs of exon 6 and the first 771 base-pairs of intron 6. As a result of the mutation, 99 base-pairs of intron 6 are included in the mRNA and a cryptic splice donor within intron 6 is used to splice the mRNA to exon 7. The included intron 6 sequence encoded 13 novel amino acids before a premature termination codon was encountered, resulting in the loss of the final 78 amino acids of the protein. Immunoblot analysis of brain extracts failed to detect any protein.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Uchl1<nm3419>,
  • Uch-L1<nm3419>,
  • Uch-L1<nm3419>,
  • Uchl1<nm3419>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

10 Publication categories