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Allele : Hps1<ep-7J> HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; pale ear 7 Jackson

Primary Identifier  MGI:5500910 Allele Type  Spontaneous
Gene  Hps1 Inheritance Mode  Recessive
Strain of Origin  CAST/EiJ Is Recombinase  false
Is Wild Type  false
molecularNote  A spontaneous single nucleotide C-to-A transversion at chromosome 19 position 42,778,139 (GRCm38) causes a premature stop codon from a glutamic acid codon at residue 34 (p.E34*) of the 704 amino acid protein.
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories