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Notch2tm2.1Ecan
Targeted Allele Detail
Summary
Symbol: Notch2tm2.1Ecan
Name: notch 2; targeted mutation 2.1, Ernesto Canalis
MGI ID: MGI:6157622
Synonyms: Notch2COIN
Gene: Notch2  Location: Chr3:97920854-98057683 bp, + strand  Genetic Position: Chr3, 42.42 cM
Alliance: Notch2tm2.1Ecan page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:246017
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
 
Mutation detailsA conditional by inversion (COIN) intron consisting of a lox66_HA-Egfp- polyA_lox71 was inserted in the antisense orientation after AAG codon encoding lysine 2384 in exon 34 via homologous recombination. Exon 34 is split into two exons, upstream of the PEST domain and downstream of the domains required for the transcriptional activation of Notch2. The two lox sites are in reverse complementation orientation, thus cre-mediated recombination will irreversibly invert the inserted sequence. In addition an FRT flanked UBp-neomycin selection cassette was inserted after the COIN intron. Prior to cre recombination, the COIN module is removed by splicing of the precursor mRNA to generate a transcript that is indistinguishable from the wild-type mRNA. Flp-mediated recombination removed the neomycin cassette. (J:246017)
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: 4 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 Notch2 Mutation:  97 strains or lines available
References
Original:  J:246017 Zanotti S, et al., Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome. J Biol Chem. 2017 Jul 21;292(29):12232-12244
All:  2 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
04/09/2024
MGI 6.23
The Jackson Laboratory