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Allele : Asah1<tm1Medin> N-acylsphingosine amidohydrolase 1; targeted mutation 1, Jeffrey Medin

Primary Identifier  MGI:5792731 Allele Type  Targeted
Attribute String  Not Specified Gene  Asah1
Transmission  Germline Strain of Origin  129S6/SvEvTac
Is Recombinase  false Is Wild Type  false
molecularNote  A floxed neomycin resistance cassette was inserted upstream of the modified exon 13 in which a C to G point mutation results in the replacement of proline with arginine at position 361 (P361R). This mutation was identified in patients with Farber disease.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Asah1<P361R>,
  • Asah1<P361R>
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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