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Allele : Pdss2<kd> prenyl (solanesyl) diphosphate synthase, subunit 2; kidney disease

Primary Identifier  MGI:1856927 Allele Type  Spontaneous
Gene  Pdss2 Inheritance Mode  Recessive
Strain of Origin  CBA/H Is Recombinase  false
Is Wild Type  false
description  Phenotypic Similarity to Human Syndrome: Collapsing glomerulopathy (J:170955).
molecularNote  A G-to-A transition mutation occured in codon 117 resulting in a valine to methionine substitution in the encoded protein (p.V117M). The mutation is contained in both alternative splice products.
  • mutations:
  • Single point mutation
  • synonyms:
  • kd,
  • kd
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

6 Carried By

0 Driven By

20 Publication categories