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. |