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Tfap2bem2Sleep
Endonuclease-mediated Allele Detail
Summary
Symbol: Tfap2bem2Sleep
Name: transcription factor AP-2 beta; endonuclease-mediated mutation 2, Yu Hayashi
MGI ID: MGI:7627104
Synonyms: Tfap2bK145
Gene: Tfap2b  Location: Chr1:19279138-19308800 bp, + strand  Genetic Position: Chr1, 6.19 cM, cytoband A2-A4
Alliance: Tfap2bem2Sleep page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsA G>C mutation (c.822-1G>C) was created in intron 4 using an sgRNA (equivalent to TTTTCGATTTGGCTCTGCAG) and an ssODN template with CRISPR/Cas9 technology. The mutation, which changes exon 5 splice acceptor site CAG to CAC, is the equivalent of the same human mutation associated with short sleep in a Char syndrome patient. Transcription from this allele is very low and splicing is aberrant. (J:297685)
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 Tfap2b Mutation:  29 strains or lines available
References
Original:  J:297685 Nakai A, et al., Sleep Architecture in Mice Is Shaped by the Transcription Factor AP-2beta. Genetics. 2020 Nov;216(3):753-764
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