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Allele : Arsb<m1J> arylsulfatase B; mutation 1, Jackson

Primary Identifier  MGI:3800577 Allele Type  Chemically induced (ENU)
Attribute String  Hypomorph Gene  Arsb
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  This ENU induced mutation was identified at The Jackson Laboratory. The mutation is a G-to-T change at residue 93,790,102 (GRCm38) in exon 2 which changes glutamic acid codon 127 to a stop codon (p.E127*), leading to truncation of the encoded protein and reduced activity.
  • mutations:
  • Single point mutation
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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

17 Publication categories