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Pdss2kd
Spontaneous Allele Detail
Nomenclature
Symbol: Pdss2kd
Name: prenyl (solanesyl) diphosphate synthase, subunit 2; kidney disease
MGI ID: MGI:1856927
Synonyms: kd
Gene: Pdss2  Location: Chr10:43097482-43340878 bp, + strand  Genetic Position: Chr10, 22.91 cM, cytoband B2
Mutation
origin
Strain of Origin:  CBA/H
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA 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. (J:65389, J:101779)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 12 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pdss2 Mutation:  25 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Collapsing glomerulopathy (J:170955).
References
Original:  J:24778 Hulse EV, et al., Kidney disease, kd. Mouse News Lett. 1965;32:38
All:  19 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/30/2021
MGI 6.17
The Jackson Laboratory