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Allele : Otc<spf-ash> ornithine transcarbamylase; abnormal skin and hair

Primary Identifier  MGI:1856179 Allele Type  Spontaneous
Attribute String  Hypomorph Gene  Otc
Inheritance Mode  Semidominant Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  A G-to-A missense transition of the last nucleotide of exon 4 changes an arginine to histidine (p.R129H) and results in inefficient mRNA splicing at this site, as well as at a site located 48 bases into the adjacent intron. This allele is hypomorphic; approximately 5-10% of wild-type hepatic enzyme activity is retained.
  • mutations:
  • Single point mutation
  • synonyms:
  • spf-ash,
  • spf<ash>,
  • spf-ash,
  • spf<ash>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

33 Publication categories

Trail: Allele