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

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Gene: Anks6^PKD (ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease) Rattus norvegicus

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Symbol:	Anks6^PKD
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
Is Marker For:	Strains: SPRD-Anks6^PKD/Fsn SPRD-Anks6^PKD/Rrrc PKD/Mhm SD-Tg(hCMV-Anks6^PKD)Mhm
Latest Assembly:	mRatBN7.2 - mRatBN7.2 Assembly
Position:	No map positions available.

Annotation Click to see Annotation Detail View

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

decreased hematocrit (IAGP)

enlarged kidney (IAGP)

increased blood urea nitrogen level (IAGP)

increased circulating creatinine level (IAGP)

increased kidney weight (IAGP)

premature death (IAGP)

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 Anks6^PKD

PKD/Mhm SD-Tg(hCMV-Anks6^PKD)Mhm SPRD-Anks6^PKD/Fsn SPRD-Anks6^PKD/Rrrc

Expression

Sequence

Nucleotide Sequences

Additional Information

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2018-03-14	Anks6^PKD	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

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Mammalian Phenotype