Tmem67<sup>wpk</sup> (transmembrane protein 67; wpk mutant)

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Gene: Tmem67^wpk (transmembrane protein 67; wpk mutant) Rattus norvegicus

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Symbol:	Tmem67^wpk
Name:	transmembrane protein 67; wpk mutant
RGD ID:	14995943
Description:	A single C to T substitution in exon 12 was identified as the mutated allele in the Wpk rat. This mutation converts a proline to a leucine in the protein products(P394L). This mutation was not present in the parental Wistar strain. INVOLVED IN head development; ASSOCIATED WITH abnormal blood-cerebrospinal fluid barrier function; abnormal cerebrospinal fluid flow; abnormal ciliary body morphology; ASSOCIATED WITH autosomal recessive polycystic kidney disease; communicating hydrocephalus; hydrocephalus
Type:	allele of Tmem67
Is Marker For:	Strains: Wpk Wpk ^+/- Wpk ^-/-
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

autosomal recessive polycystic kidney disease (IAGP)

communicating hydrocephalus (IAGP)

hydrocephalus (IAGP)

Meckel syndrome 3 (IAGP)

proteinuria (IAGP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

head development (IMP)

Phenotype Annotations Click to see Annotation Detail View

Mammalian Phenotype

abnormal blood-cerebrospinal fluid barrier function (IAGP)

abnormal cerebrospinal fluid flow (IAGP)

abnormal ciliary body morphology (IAGP)

abnormal head shape (IAGP)

abnormal head size (IAGP)

decreased body height (IAGP)

decreased body weight (IAGP)

decreased corpus callosum size (IAGP)

dilated lateral ventricle (IAGP)

enlarged lateral ventricles (IAGP)

increased blood urea nitrogen level (IAGP)

increased brain ependyma motile cilium length (IAGP)

increased brain weight (IAGP)

increased circulating creatinine level (IAGP)

increased kidney weight (IAGP)

increased mean systemic arterial blood pressure (IAGP)

increased spleen weight (IAGP)

increased thymus weight (IAGP)

increased urine osmolality (IAGP)

increased vascular permeability (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Development of multiorgan pathology in the wpk rat model of polycystic kidney disease.	Gattone VH, etal., Anat Rec A Discov Mol Cell Evol Biol. 2004 Apr;277(2):384-95. doi: 10.1002/ar.a.20022.
2.	New rat model that phenotypically resembles autosomal recessive polycystic kidney disease.	Nauta J, etal., J Am Soc Nephrol 2000 Dec;11(12):2272-84.
3.	Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation.	Shim JW, etal., Sci Rep. 2019 Jan 31;9(1):1069. doi: 10.1038/s41598-018-37620-5.
4.	The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.	Smith UM, etal., Nat Genet. 2006 Feb;38(2):191-6. Epub 2006 Jan 15.

Genomics

Allelic Variants

Name	Chromosome	Start Pos	End Pos	Reference Nucleotide	Variant Nucleotide	Variant Type	Assembly
Tmem67wpk-var1	chr5	25567678	25567678	C	T	C_to_T_transition	mRatBN7.2

Related Rat Strains

The following Strains have been annotated to Tmem67^wpk

Wpk Wpk ^+/- Wpk ^-/-

Expression

Sequence

Nucleotide Sequences

Additional Information

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Mammalian Phenotype