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Tlr7em2Anu
Endonuclease-mediated Allele Detail
Summary
Symbol: Tlr7em2Anu
Name: toll-like receptor 7; endonuclease-mediated mutation 2, Australian National University
MGI ID: MGI:7279260
Synonyms: kika, Tlr7em2(Y264H)Anu, TLR7kik, TLR7Y264H
Gene: Tlr7  Location: ChrX:166087925-166113554 bp, - strand  Genetic Position: ChrX, 78.31 cM, cytoband F5
Alliance: Tlr7em2Anu page
Mutation
origin
Strain of Origin:  C57BL/6NCrl
Mutation
description
Allele Type:    Endonuclease-mediated (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsCRISPR-targeting introduced the mutation that produces the amino acid substitution tyrosine to histidine at position 264 (Y264H). (J:324448)
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: 13 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 Tlr7 Mutation:  20 strains or lines available
References
Original:  J:324448 Brown GJ, et al., TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022;605(7909):349-356
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