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Rr304em1Drf
Endonuclease-mediated Allele Detail
Summary
Symbol: Rr304em1Drf
Name: regulatory region 304; endonuclease-mediated mutation 1, David R FitzPatrick
MGI ID: MGI:7367486
Synonyms: Tenm1CRE
Gene: Rr304  Location: unknown  Genetic Position: ChrX, Syntenic
Alliance: Rr304em1Drf page
Mutation
origin
Strain of Origin:  Not Applicable
Mutation
description
Allele Type:    Endonuclease-mediated (Modified regulatory region)
Mutation:    Single point mutation
 
Mutation detailsA G>A mutation was engineered in the Tenm1 cis-regulatory element (CRE) using an sgRNA (targeting AATATTATTAGCCACACATTTGG) and a ssODN template (TAAGATGGATTCATATTAGGGCTCAAATGCATTGATAGCATTCTACATATTTTTATCCATTTTTATTCCAAGCTACTTTTATCCAAATAGTTATAGACACAAGGTTATTGCAAATTGTATTTGTCTGCTGCCATAGTGCTTTCTATTTTAGAGGAGTAGAAGTAACTATCTCCTTAACAA) with CRISPR/Cas9 technology. The mutation mimics one found in some families with individuals presenting with X-linked intellectual disability (XLID). (J:308813)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Rr304 Mutation:  0 strains or lines available
References
Original:  J:308813 Bengani H, et al., Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. PLoS One. 2021;16(8):e0256181
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
11/12/2024
MGI 6.24
The Jackson Laboratory