Allele/Variant

Tg(NPHS2-Trpc6*P111Q)F615Walz

Species
Mus musculus
Symbol
Tg(NPHS2-Trpc6*P111Q)F615Walz
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • Trpc6-HA P111Q
Description
The Trpc6-HA wildtype cDNA sequence was made by modifying a Trpc6 cDNA sequence (encoding a 930 amino acid protein) originally isolated from mouse brain tissue by both repairing an A2615G point mutation (D872G) and also by in-frame addition of an influenza virus hemaglutinin epitope (HA-tag) at the 3' end. The cDNA sequence was placed downstream of a 2.5 kbp fragment from the promoter/enhancer region of the human podocin locus (NPHS2) and upstream from a bovine growth hormone polyA sequence. The C332A nucleotide substitution was introduced to produce the amino acid substitution of glutamine for proline at position 111 (P111Q). Lines F615 and F615 were generated.
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
References
abnormal glomerular mesangium morphologyMGI
abnormal perihilar interstitium morphologyMGI
abnormal renal glomerulus morphologyMGI
albuminuriaMGI
glomerulosclerosisMGI
increased renal glomerulus basement membrane thicknessMGI
podocyte foot process effacementMGI
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Disease Associations

Association
Disease Qualifier
Disease
Annotation details
Evidence
Source
References
is implicated infocal segmental glomerulosclerosis 2
  • TAS
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