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Allele : Asph<tm1Jed> aspartate-beta-hydroxylase; targeted mutation 1, Joe E Dinchuk

Primary Identifier  MGI:2179287 Allele Type  Targeted
Attribute String  Null/knockout Gene  Asph
Transmission  Germline Strain of Origin  129S7/SvEvBrd-Hprt1<b-m2>
Is Recombinase  false Is Wild Type  false
molecularNote  Replacement of exons 22-23 with a PGK-neo cassette via homologous recombination specifically disrupted the aspartyl beta-hydroxylase activity of one of 3 different protein products from this gene. Western blot of various tissues from homozygous mutant animals did not detect protein product and real-time PCR assay did not detect transcripts containing exons 22 and 23. In vitro and in vivo enzyme assays demonstrated protein extracts from homozygous mutant animals lacked aspartyl beta-hydroxylase activity.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • BAH-,
  • BAH-
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories