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Allele : Uros<tm1Cged> uroporphyrinogen III synthase; targeted mutation 1, Cecile Ged

Primary Identifier  MGI:3619379 Allele Type  Targeted
Attribute String  Humanized sequence, Modified isoform(s) Gene  Uros
Transmission  Germline Strain of Origin  129S2/SvPas
Is Recombinase  false Is Wild Type  false
molecularNote  A targeting vector was used to insert a neo into intron 9 and a P248Q missense mutation encoded by a CCA to CAA substitution in exon 10. This mutation recreates one found in congenital erythropoietic porphyria (CEP) patients.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Uros<P248Q>,
  • Uros<P248Q>
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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

8 Publication categories

Trail: Allele