Wfs1<sup>em1Ptsn</sup> (wolframin ER transmembrane glycoprotein; ZFN induced mutant 1)

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Gene: Wfs1^em1Ptsn (wolframin ER transmembrane glycoprotein; ZFN induced mutant 1) Rattus norvegicus

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Symbol:	Wfs1^em1Ptsn
Name:	wolframin ER transmembrane glycoprotein; ZFN induced mutant 1
RGD ID:	149735335
Description:	This allele was created in embryos from Sprague-Dawley rats (Crl: CD(SD). A 27 amino acid deletion in exon 5 (aa212-238) was identified. ASSOCIATED WITH abnormal brainstem morphology; decreased insulin secretion; decreased pancreatic beta cell mass; ASSOCIATED WITH cataract; diabetes mellitus; glucose intolerance
Type:	allele of Wfs1
Previously known as:	Wfs1^em1
Is Marker For:	Strains: SD-Wfs1^em1Ptsn
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

cataract (IMP)

diabetes mellitus (IMP)

glucose intolerance (IMP)

Phenotype Annotations Click to see Annotation Detail View

Mammalian Phenotype

abnormal brainstem morphology (IMP)

decreased insulin secretion (IMP)

decreased pancreatic beta cell mass (IMP)

decreased pancreatic islet number (IMP)

hyperglycemia (IMP)

hypermyelination (IMP)

impaired glucose tolerance (IMP)

increased circulating glucose level (IMP)

increased endoplasmic reticulum stress (IMP)

increased urine glucose level (IMP)

optic nerve atrophy (IMP)

retina gliosis (IMP)

small pancreatic islets (IMP)

weight loss (IMP)

References

References - curated

#	Reference Title	Reference Citation
1.	Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration.	Plaas M, etal., Sci Rep. 2017 Aug 31;7(1):10220. doi: 10.1038/s41598-017-09392-x.
2.	Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome.	Toots M, etal., Sci Rep. 2018 Jul 5;8(1):10183. doi: 10.1038/s41598-018-28314-z.

Genomics

Related Rat Strains

The following Strains have been annotated to Wfs1^em1Ptsn

SD-Wfs1^em1Ptsn

Expression

Sequence

Nucleotide Sequences

Additional Information

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2021-07-29	Wfs1^em1Ptsn	wolframin ER transmembrane glycoprotein; ZFN induced mutant 1	Wfs1^em1	wolframin ER transmembrane glycoprotein; ZFN induced mutant 1	Symbol changed	629549	APPROVED

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Mammalian Phenotype