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Cdc27tm1.1Ics
Targeted Allele Detail
Summary
Symbol: Cdc27tm1.1Ics
Name: cell division cycle 27; targeted mutation 1.1, Mouse Clinical Institute
MGI ID: MGI:7616486
Synonyms: Cdc27S92F
Gene: Cdc27  Location: Chr11:104393571-104441446 bp, - strand  Genetic Position: Chr11, 67.79 cM
Alliance: Cdc27tm1.1Ics page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:342743
Parent Cell Line:  BD10 (ES Cell)
Strain of Origin:  C57BL/6NTac
Mutation
description
Allele Type:    Targeted (Conditional ready, Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsSerine codon 93 (TCT) in exon 4 was changed to phenylalanine (TTT) (p.S93F). A loxP site was inserted into intron 3 and an FRT site flanked neomycin resistance gene cassette and second loxP site were inserted into intron 5. The neo cassette was removed through subsequent Flp-mediated recombination, leaving exons 4-5 floxed. Mutations in the human ortholog are associated with non-syndromic intellectual disability. (J:342743)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cdc27 Mutation:  56 strains or lines available
References
Original:  J:342743 Meziane H, et al., Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines. 2022 Dec 6;10(12)
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
07/02/2024
MGI 6.13
The Jackson Laboratory