Pdss2^kd
Spontaneous Allele Detail

Summary

• Symbol: Pdss2^kd
• 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
• Alliance: Pdss2^kd page

Mutation origin

• Strain of Origin: CBA/H

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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. (J:65389, J:101779)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

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: 31 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)