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Allele : Hps4<le> HPS4, biogenesis of lysosomal organelles complex 3 subunit 2; light-ear

Primary Identifier  MGI:1856931 Allele Type  Spontaneous
Attribute String  Null/knockout Gene  Hps4
Inheritance Mode  Recessive Strain of Origin  C3H/HeJ
Is Recombinase  false Is Wild Type  false
molecularNote  The underlying mutation responsible for the phenotype in the light ear mouse was identified as a C-to-T substitution that resulted in a nonsense mutation at glutamine codon 50 (p.Q50*). The absence of protein in homozygous mutant animals was demonstrated through immunoblot analysis.
  • mutations:
  • Single point mutation
  • synonyms:
  • light-ear,
  • le,
  • le,
  • light-ear
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

10 Carried By

0 Driven By

28 Publication categories