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Rr80em1Jwsk
Endonuclease-mediated Allele Detail
Summary
Symbol: Rr80em1Jwsk
Name: regulatory region 80; endonuclease-mediated mutation 1, Joanna Wysocka
MGI ID: MGI:6720282
Synonyms: mEC1.45del-founder1
Gene: Rr80  Location: Chr11:111456657-111460228 bp  Genetic Position: Chr11, Syntenic
Alliance: Rr80em1Jwsk page
Mutation
origin
Strain of Origin:  129S7/SvEvBrd-Hprt1+
Mutation
description
Allele Type:    Endonuclease-mediated (Modified regulatory region, Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR-targeting deleted 3572 bp, including the enhancer cluster 1.45 (EC1.45) located upstream 1.45 Mb upstream of Sox9. (J:306395)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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 Rr80 Mutation:  0 strains or lines available
References
Original:  J:306395 Long HK, et al., Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder. Cell Stem Cell. 2020 Nov 5;27(5):765-783.e14
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
12/10/2024
MGI 6.24
The Jackson Laboratory