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Rr497em1Zhhu
Endonuclease-mediated Allele Detail
Summary
Symbol: Rr497em1Zhhu
Name: regulatory region 497; endonuclease-mediated mutation 1, Zhengmao Hu
MGI ID: MGI:7703159
Synonyms: LOH-1-KO
Gene: Rr497  Location: Chr3:128300731-128705731 bp  Genetic Position: Chr3, Syntenic
Alliance: Rr497em1Zhhu page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence, Modified regulatory region)
Mutation:    Intergenic deletion
 
Mutation detailsA potential Pitx2 enhancer-containing region (GRCm39:chr3:128300731-128705731), equivalent to that deleted in Axenfeld-Rieger syndrome (ARS), was deleted using sgRNAs with CRISPR/Cas9 technology. (J:349012)
Expression
In Mice Carrying this Mutation: 8 assay results
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 Rr497 Mutation:  0 strains or lines available
References
Original:  J:349012 Jiang Y, et al., Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2. JCI Insight. 2024 Apr 9;9(9)
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
03/25/2025
MGI 6.24
The Jackson Laboratory