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Reep6em1Ruch
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Reep6em1Ruch
Name: receptor accessory protein 6; endonuclease-mediated mutation 1, Rui Chen
MGI ID: MGI:6118044
Synonyms: Reep6L135P
Gene: Reep6  Location: Chr10:80329997-80336441 bp, + strand  Genetic Position: Chr10, 39.72 cM, cytoband C1
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsCRISPR-Cas9 mediated mutagenesis created a T to C missense mutation at position 404 (c404T>C) in exon 4 resulting in a proline substitution for leucine at amino acid 135 (pLeu135Pro) that has been identified in patients with Retinitis Pigmentosa. Western blot analysis indicates that protein levels in the retina are similar to that in wild-type mice. (J:248574)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Reep6 Mutation:  13 strains or lines available
References
Original:  J:248574 Arno G, et al., Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016 Dec 1;99(6):1305-1315
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/03/2020
MGI 6.15
The Jackson Laboratory