Tmem67<sup>wpk</sup> (transmembrane protein 67; wpk mutant) - Rat Genome Database

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Gene: Tmem67wpk (transmembrane protein 67; wpk mutant) Rattus norvegicus
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Symbol: Tmem67wpk
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  
Previously known as: Tmem67^[wpk]
Is Marker For: Strains:   Wpk   Wpk +/-   Wpk -/-  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position: No map positions available.


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 Tmem67wpk
Wpk     Wpk +/-     Wpk -/-    


Expression


Sequence

Nucleotide Sequences


Additional Information