Anks6<sup>PKD</sup> (ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease) - Rat Genome Database

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Gene: Anks6PKD (ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease) Rattus norvegicus
Analyze
Symbol: Anks6PKD
Name: ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease
RGD ID: 11534996
Description: This allele is a spontaneously missense mutant found in a polycystic kidney diseased male Sprague Dawley rat. The mutation was a C to T transition that replaces an arginine by a tryptophan at amino acid 823 in the protein sequence.
ASSOCIATED WITH decreased hematocrit; enlarged kidney; increased blood urea nitrogen level; ASSOCIATED WITH polycystic kidney disease; proteinuria; uremia
Type: allele  of Anks6  
Previously known as: Anks6 PKD(p.R823W); Anks6 PKD; Anks6 PKD; Anks6^[PKD]
Is Marker For: Strains:   SPRD-Anks6PKD/Fsn   SPRD-Anks6PKD/Rrrc   PKD/Mhm   SD-Tg(hCMV-Anks6PKD)Mhm  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position: No map positions available.


Disease Annotations     Click to see Annotation Detail View
polycystic kidney disease  (IAGP,IMP)
proteinuria  (IAGP)
uremia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat. Brown JH, etal., J Am Soc Nephrol. 2005 Dec;16(12):3517-26. Epub 2005 Oct 5.
2. Transgenic overexpression of Anks6(p.R823W) causes polycystic kidney disease in rats. Neudecker S, etal., Am J Pathol. 2010 Dec;177(6):3000-9. doi: 10.2353/ajpath.2010.100569.
3. Characterization of the Han:SPRD rat model for hereditary polycystic kidney disease. Schafer K, etal., Kidney Int 1994 Jul;46(1):134-52.

Genomics


Related Rat Strains
The following Strains have been annotated to Anks6PKD
PKD/Mhm     SD-Tg(hCMV-Anks6PKD)Mhm     SPRD-Anks6PKD/Fsn     SPRD-Anks6PKD/Rrrc    


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences


Additional Information


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-03-14 Anks6PKD  ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease  Anks6 PKD  ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease  Symbol changed 629549 APPROVED
2017-07-21 Anks6 PKD  ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease  Tg(hCMV- Anks6 PKD(p.R823W))Mhm  ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease; transgene  Data merged from RGD:11535002 737654 PROVISIONAL
2016-11-29 Anks6 PKD  ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease  Anks6 PKD(p.R823W)  ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease  Symbol changed 629549 APPROVED
2016-09-16 Anks6 PKD(p.R823W)  ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease  Anks6 cy(p.R823W)  ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease  Symbol changed 629549 APPROVED