Notch2^tm2.1Ecan
Targeted Allele Detail

Summary

• Symbol: Notch2^tm2.1Ecan
• Name: notch 2; targeted mutation 2.1, Ernesto Canalis
• MGI ID: MGI:6157622
• Synonyms: Notch2^COIN
• Gene: Notch2 Location: Chr3:97920854-98057683 bp, + strand Genetic Position: Chr3, 42.42 cM
• Alliance: Notch2^tm2.1Ecan 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 details: A 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)

Disease models

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: 99 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: 3 reference(s)